- Influenza virus.

- Influenza virus belongs to Orthomyxoviridae family (single-stranded, negative-sense RNA,enveloped viruses and replicate by nuclear replication).

- Genera which are identified by antigenic differences in their nucleoprotein and matrix protein :-

• Influenza A virus.
• Influenza B virus.
• Influenza C virus.

*Influenza Virus Morphology*

- The particles are mostly spherical, 80-120 nm diameter,its core diameter 9 nm and has helical nucleoprotein.

-Nucleoprotein(RNA + nucleoprotein, NP)is any protein which is structurally associated with nucleic acid.

-Matrix proteins(M1,M2)are structural proteins linking the viral envelope with the virus core.

- The virus has a lipid envelope from which project 500 prominent glycoprotein spikes 10 - 14 nm from the surface and are of two types:-

1. Haemagglutinin (HA or H)"the major" which is a sugar-binding protein that mediates binding of the virus to target cells and entry of the viral genome into the target cell.

2. Neuraminidase (NA or N) which is an enzyme involved in the release of virus progeny from infected cells, by cleaving sugars that bind the mature viral particles.

-Ratio of HA to NA is about 4-5 to 1.

(Simplified cartoon showing structure of influenza virus image from Nature)

*Virus Mutation*

-Every 10 - 15 years a major new pandemic strain appears in man, with a totally new H and sometimes a new N as well (Antigenic Shift) which means complete change in HA and NA.

-This new variant may cause a major epidemic around the world.

- Over the subsequent years this strain undergoes minor changes (Antigenic Drift) every two to three years which means incomplete change in HA and NA.

*serotypes:-

- Influenza A viruses are further classified, based on the viral surface proteins (HA or H) and (NA or N) into 16 H subtypes (or serotypes) and 9 N subtypes giving a large number of subtypes due to different associations.

-Influenza B: Known only in man and seals and is less common than influenza A Undergoes relatively slow change in HA with time,consequently is less genetically diverse, with only one influenza B serotype as a result of this lack of antigenic diversity, a degree of immunity to influenza B is usually acquired at an early age.

-Influenza C: Uncommon strain, known only in man and pigs and can cause severe illness and local epidemics.

-Influenza A viruses have an importance nowadays due to lack of specificity to a single host tissue and genome re-assortment which leaded to a panic in the world as for example human Influenza A H1N1 was causing seasonal flu in man and Swine Influenza A H1N1 was causing endemic flu in pigs,swine H1N1 made re-assortment in pig to be transmitted to man leading to pandemic of swine flu in world.

Dr Ibrahim...

- Integrated Management of Childhood Illness (Imci).

- Def:-
An integrated approach to child health which focuses on the well being of whole child.

- Aims (Broad goals-الأهداف العامة):-

• Reduce death, illness and disability
• Promote improved growth and development among children under five years of age.
• Includes both preventive and curative elements implemented by families,communities and health facilities.

-Objectives(الأهداف الصغيرة-underlying goals):-

1- In Health facilities,IMCI strategy promotes:-

• The accurate diagnosis of childhood illnesses in outpatient clinics.
• Appropriate combined treatment of all major illnesses.
• Improving skills of PHC staff.
• Speeding up the referral of severely ill children.

2- In the home setting,IMCI strategy promotes:-

• Appropriate care seeking behaviours
• Improved nutrition and preventative care.
• Correct implementation of prescribed care/and drugs.

- Why is IMCI better than single-condition approaches?

• Children brought for medical treatment in the developing world are often suffering from more than one condition, making a single diagnosis impossible.
• IMCI ensures the combined treatment of the major childhood illnesses, emphasizing prevention of disease through immunization and improved nutrition.

-Rationale of IMCI in developing countries:-

1-More than10million deaths/year among children under 5 years of age in developing countries.

2-70% of these deaths are due to just 5 preventable and treatable
conditions (pneumonia,diarrhea
malaria,measles and malnutrition).

3-Surveys show that many sick children aren't properly treated by healthcare providers as their parents are poorly advised.

4-In developing countries diagnostic aids (Radiology or lab) are minimal or absent.

5-In developing countries drugs and equipment are limited.

6-These limitations leave doctors helpless,they often rely on history,signs and symptoms to determine the management with least cost.

- Components :-

The strategy includes three main components:-

• Improving case management skills of health-care staff(health-worker component).
• Improving overall health systems(health-service component).
• Improving family and community health practices(community component).

-The department responsible for IMCI in WHO is called "Child and adolescent health department"(CAH) here.

-Benefits of Integrated Management of Childhood Illness (IMCI)(3):-

• Addresses major child health problems by addressing the most important causes of childhood death and illness.
• Responds to demand – Every day millions of parents take their sick children to hospitals and health centres,pharmacists and community health care providers. At least three out of four of these children are suffering from one of the five conditions that are the focus of IMCI.
• Promotes prevention as well as cure .
• Is cost-effective – Investing in Health ranked IMCI among the 10 most cost-effective interventions in both low- and middle-income countries.
• Promotes cost saving – Inappropriate management of childhood illness wastes scarce resources. Although increased investment will be needed initially for training and reorganization, the IMCI strategy will result in cost savings.
• Improves equity – Nearly all children in the developed world have ready access to simple and affordable preventive and curative care which protects them from death due to ARI, diarrhoea, measles, malaria and malnutrition. Millions of children in the developing world, however, do not have access to this same life-savingcare. The IMCI strategy addresses this inequity in global health care.

-Implementation of IMCI:-
(How does IMCI achieve these goals?)
1-Adopting this strategy in the national health policy.
2-Adapting the standard IMCI clinical guidelines to the country's needs,Available drugs,policies,and to local foods.
3-Upgrading care in PHC units by training staff in new methods of management of children.
4-Implementation of the concept of the essential drug list.
5-strengthening the referral system.
6-Implementation of IMCI is done in conjugation with other health strategies (e.g Roll back malaria,Nutrition,EPI,IMPAC).


- Some WHO publications concerned with IMCI:-

*IMCI chart booklet - standard,

• Page here
• Download here.

* Handbook:IMCI integrated management of childhood illness.

• Page here
• Download here.

* Integrated Management of Childhood Illness (Imci) Photographs:-

• Download here.

-References:-

(1)Mohammed Kamel Farag ,community medicine, non communicable disorders & management in health care ,Ch 14 ,Child health care services, p.g 181-183.
(2)About Integrated Management of Childhood Illness (IMCI), Pan American Health Organizationn here.
(3)IMCI information package (here) ,WHO/CHS/CAH/98.1 A-M Rev.1 1999, BOX 1,p.g 4.
(Figer 1)UNICEF:The state of the worlds children 2008: child survival(here)UNICEF/HQ07-0108/Thierry Delvigne Jean
(Figer 2)UNICEF:The state of the worlds children 2008: child survival(here)New York: UNICEF; 2007.

- Pedigree.

-A pedigree:- is a diagram of a family history and illustrates relationships among family members; it shows which family members are affected with specific medical conditions.

-Information for a three-generation pedigree should be obtained from a family being evaluated for a genetic disorder.

- The patient through whom the family is ascertained is called the proband.

(Symbols commonly used in pedigree chart)

-Consanguinty:-

There are Five degrees of Consanguinty:-

*first-degree:-
-First-degree relatives share half of their genetic material with the proband (brothers, sisters, children,parents).

*second degree:-
-Second degre relatives share one fourth of their genetic material (grandparents,aunts,uncles).

*Third degree:-
-Third degree relatives share one eighth of their genetic material with the proband(1st cousin).

*Fourth degree:-
-Fourth degree relatives share one sixteenth of their genetic material with the proband(2nd cousin).

*Fifth degree:-
-Fifth degree relatives are once remote form the proband.


References:-
(1)Richard E Behrman,Nelson Textbook of Pediatrics,17th ed,ch69,(http://www.elsevier.com).
(2)Bennett RL, Steinhaus KA, Uhrich SB, et al: Recommendations for standardized pedigree nomenclature. J Genet Counsel 1995;4:267–79.)

- All you need about "Down´s syndrome".

-History:-

English physician John Down first characterized Down
syndrome as a distinct form of mental disability in 1862 due to
his perception that children with Down syndrome shared physical
facial similarities (epicanthal folds) with those of Mongolian race.

-Incidence:-

• In general population 1:660.
• It is the most common Autosomal abnormalities.
• It has equal sex distribution.

-Causes (cytogenic types):-

1-Complete Trisomy 21 (non disjunction):-

-Incidence:- 95%.

-Due to non-disjunction of chromosome 21 during meiotic division (

(i.e failure of a chromosome 21 pair to separate) so an ovum with

24 chromosomes when fertilized by a sperm carrying 23

chromosomes lead to formation of a fertilized ovum with

47 chromosome.

-It occur during oogenesis more than spermatgenesis.

-The risk increases with age of the pregnant mother especially

over 40years as the primary oocytes of the mother have satyed in

the prophase for a long time ( 40 years or more).

-Karyotyping:-

47,xx+21(female down).

47,xy+21(male down).

(+ means that an extra chromosome is present).

(Non disjunction in mother)

2-Mosaic Down´s syndrome:-

-Incidence:- 1%.
-It is the best type.
-Due to non-disjunction of chromosome 21 occurig early in the
division of zygote (i.e after zygote formation) which results in
formation of two cell lines (normal & trisomic).

-Karyotyping:-
some cells as non-disjunction type & the other are normal.

-Clinical manifestaions are less than complete triosomy.


3-Translocation Down Syndrome:-

-Incidence:- 4%.
-Due to unbalanced translocation of chromosome 21 to another
chromosome in group D (usually chromosome 21) or to another
chromosome in group g resulting in phenotype same as trisomy 21
Down syndrome but genotype is 46 chromosome.

-It is the most serious type.

-Robertsonian translocations is the most common type.


-Clinical manifestaions:-

1-conatant features:-

• Physical growth retardation.
• Mild to moderate degrees of mental retardation.
• Hypotonia.

2-Head:-

• Brachycephaly(flat occipit).
• silky hair.
• Microcephaly.
• Wide anterior fontanel.
• Delayed closure of posterior fontanel.

3-Eye:-

• upward slanting eyes.
• Medial epicanthal folds(extra skin folds at the medial
• corners of the eyes).
• narrow palpebral fissures.
• Brushfield spots iris(speckled irises).
• hypertelorism.
• cataract.

4-Ears:-

• small.
• low set.
• Backward displacment.

5-Neck:-

• Short.
• webbed.

6-Nose:-

• small.
• depressed nasal bridge.

7-Heart:-

• Congenital HD(50%)
• Most common(Av canal,VSD).

8-Tongue:-

• Protruded (small oral cavity).
• fissured.

9-Ribs:-
unilateral or bilateral absence of one rib.

10-Abdomen:-

• Duodenal atresia.
• Imperforate anus.
• Umbilical hernia.
• Congenital mega colon.
• Distended abdomen(Due to hypotonia).
• Diastasis recti.

11-Hands:-

• Brachydactyle(short & stocky).
• Clinodactyly i.e incurved little fingers(due to rudimentary or absent middle phalanx of little finger as it the last phalanx to develop).
• Simian creases:- may be partial or complete.
• Ridges hypoplasia.

12-Foot:-

• Syndal gap (i.e wide space between the big toe & second toe).
• syndal line(i.e deep planter crease).

13-Others:-

• Hypothyrodism(15%).
• cryptorchidism.

- Complications:-

• Accidents due to mental retardation.
• Heart failure due to Congenital HD.
• Recurrent Infections (chest,Otitis media,sinusitis) due to decrease immunity,hypotonia,aspiration.
• They are liable to leukemia "20 times more than general population.
• GIT complications.
• Arrythmia which is the cause of sudden death.

-Investigations:-

(A)Prenatal diagnosis:-

• Amniocentesis
• chrionic villous sampling
• Karyotyping
• Triple test

(b)After birth:-

• Karyotyping:- is dianostic.
• For Cvs:-Echo,ECG.
• For blood:CBC to exclude leukemia.
• Baruim for GIT anomalies.
• Radiology for U.T anomalies.
• Thyroid function tests (T3,T4,TSH).

-Treatment:-

- Treatment of congenital anomalies & associated disorders.
- Social,educational& behavioral therapy in special institutes.


*References:-

(1)Langman’s Medical Embryology 9th ed,ch1,p.g11.
(2)Priciples of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g72,73.
(3)Richard E Behrman,Nelson Textbook of Pediatrics,17th ed,Ch70,
(http://www.elsevier.com).
(4)Down syndrome from Wikipedia,here

Return to list of medical syndromes here

- Cushing's triad.

Cushing's triad

is a late sign of increase intra-cranial tension

and composed of:-

1. Hypertension.
2. Respiratory depression.
3. Bradycardia.

Return to other triads here.

- Medical syndromes.

Medical syndrome is defined as :-
A group of symptoms and signs that collectively indicate or characterize a disease, psychological disorder, or other abnormal condition.
There are a lot of medical syndromes and we try to list some of them:-
1-Down syndrome (click here).
2-Plummer-Vinson syndrome (click here).
3-Ramsay Hunt syndrome (click here).
4-Wolf-Hirschhorn Syndrome (click here).
5-Cri-du-chat syndrome (click here).
6-YY syndrome (click here).
7-Klinefelter's syndrome (click here).
8-Turner's syndrome (click here).
9- Fanconi syndrome (click here).
10-Abderhalden-Kaufmann-Lignac syndrome (click here) .
11-Light Wood-Albright syndrome(Lightwood syndrome)(click here).
12-Oculo-cerebro-renal Syndrome (click here).
13-Metabolic syndrome (click here).
14-Pickwickian syndrome (click here).
15- Kallmann syndrome (click here).
16-Sertoli-cell-only syndrome (click here).
17-Lambert-Eaton syndrome (click here).
18-Guillain Barré syndrome (click here).
19-Horner's syndrome (click here).
20-Brown-Séquard syndrome. (click here).
21-Carpal tunnel syndrome. (click here).
22-Sjögren's syndrome (click here).
23-Felty's syndrome (click here).
24-Caplan's syndrome (click here).
25-Congenital Rubella Syndrome  (click here).
26-Caroli's syndrome.  (click here).
27-Malabsorption syndrome.  (click here).
28-Duhin-Johnson syndrome.  (click here).
29-Exploding head syndrome. (click here). 

If you have other syndromes plz tell us...
Dr Ibrahim,,

-Genetics in Pediatrics.

We study genetics in Pediatrics mainly for the follwoing reasons:-

• Major component and/or reason for pediatric admissions.
• The main cause of death in first year of life.
• Nearly 71% of children in hospital have a genetic disease or susceptibility.
• Nearly 3% of newborns with significant birth defect.
• Families have concerns about recurrence, cause and available therapie.

- Nutritional problems in childhood.

" DO in pairs"

Dental caries (Ca,fluorine deficiency).
Obesity

PEM (protein energy malnutrition).
Pellgra.

Aribofilavinosis.
Vit A deficiency.

Iron deficiency anaemia.
Iodine deficiency.

Rickets (Vit D deficiency).

scurvy(Vit c deficiency).

Enjoy...
Dr Ibrahim Samaha

-Turner Syndrome.

Turner Syndrome

*Def :- It is a condition in which a female has only one X sex chromosome instead of XX in her cells (i.e XO or monosomy ) (1).

*Synonyms:-

• Ullrich-Turner syndrome.
• Gonadal dysgenesis (2).
  

*Pathophysiology:-
- Most commonly due to non-disjunction of chromosome X during formation of ova so ovum with one X chromosome when fertilized an by sperm carrying X chromosome give baby with XO.
- It occurs also in normal ovum when fertilized with sperm neither X nor Y .

* Although in females,only one X chromosome is active , the presence of two X chromosomes is essential for development of the ovaries (1).

*Karyotype (1) :- 45,XO

*Buccal smear:- -ve Barr's body.

*Hormonal assay:- decrease sex hormones.

* Clinical picture (1):-

• Short stature ( most common presentation).
  
• Lymphedema (swelling) of the hands and feet
• Broad chest (shield chest) and widely-spaced nipples
• Low hairline
• Low-set ears
• infertility ( due to ovarian dysgenesis)
• Amenorrhea, or the absence of a menstrual period
• Increased weight, obesity
• Shield shaped thorax of heart
• Shortened metacarpal IV (of hand)
• Small fingernails
• Characteristic facial features (e.g hypertelorism,epicanthic fold,narrow maxilla)
  
• Webbed neck from cystic hygroma in infancy.
• Congenital heart diseases in 35% of cases mainly Coarctation of the aorta.
• Poor breast development.
• Congenital renal diseases (e.g Horseshoe kidney).
• Cubitus valgus ( wide carrying angle).
  
• Mental development is subnormal "but intelligence is normal".
  

*Prognosis:-

While most of the physical findings in Turner syndrome are harmless, there can be significant medical problems associated with the syndrome.

*Treatment:-

As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms. For example:-(3)

• Growth hormone, either alone or with a low dose of androgen, will increase growth and probably final adult height. Growth hormone is approved by the U.S. Food and Drug Administration for treatment of Turner syndrome .(3)
• Estrogen replacement therapy at 14-15 years has been used since the condition was described in 1938 to promote development of secondary sexual characteristics.Estrogens are crucial for maintaining good bone integrity and tissue health (3).
  

Return to list of medical syndromes here

*References:-

(1) Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g76.

(2)James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
(3)Turner Syndrome Society of the United States. "FAQ 6. What can be done? Retrieved 2007-05-11.

- Klinefelter's syndrome.

Klinefelter's syndrome

*Def:- It is a condition in which males have an extra X sex chromosome (i.e XXY) in his cells(1).

*Incidence:-

• The most common sex chromosome disorder (2).
• The second most common condition caused by the presence of extra chromosomes.
• Roughly it occur by 0.1% in males.
  

* Klinefelter syndrome is named after Dr. Henry Klinefelter, an endocrinologist at Massachusetts General Hospital in Boston, Massachusetts, who first described it in 1942 (3).

*Pathophysiology (1):-

• Most commonly Due to non-disjunction of chromosome X at one of the meiotic divisions so an ovum with XX chromosome when fertilized by a sperm carrying Y chromosome lead to formation of baby with XXY .
• less commonly,the condition arise when a normal ovum is fertilized by XY sperm .
• The condition may appear with XXXY or XXXXY due to non-disjunction at both meiotic divisions this will lead to more mental retardation.

*Karyotype (1) :-

• 47,XXY
• 48,XXXY
• 49,XXXXY

*Buccal smear:- +ve Barr's body.

*Hormonal assay:- decrease androgens.

*Clinical picture:-

• Infertility.
• Gynecomastia.
• Subnormal intelligence or Mental retardation.
• microorchidism (i.e. small testicles)(4).
• Absence of body hair.
• Long stature (due to absence of androgens which help closure of epiphysis).
  

Return to list of medical syndromes here

*References:-
(1) Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g75.
(2)James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. p 549. ISBN 0721629210.
(3)Klinefelter, HF Jr; Reifenstein, EC Jr & Albright (1942), "Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone", J Clin Endocrinol Metab 2: 615–624. Klinefelter, HF (1986), "Klinefelter's syndrome: historical background and development", South Med J 79(45): 1089–1093 talks about the history of the development of the literature.
(4)Leask, Kathryn (October 2005). "Klinefelter syndrome" (HTML). National Library for Health, Specialist Libraries, Clinical Genetics. NationalLibrary for Health. . Retrieved 2007-04-07.

- YY syndrome.

YY syndrome

*Def :- A genetic condition where males have an extra Y chromosome (i.e XYY) in each of their cells .

* This is not usually an inherited condition but a defect that occurs during cell division.

* Often the condition is asymptomatic.

* Incidence :- rare disease.

*Synonyms:-

• Diplo-Y Syndrome.
• Polysomy Y.
• XYY Chromosome Pattern.

*Pathophysiology:-
Due to non-disjunction of chromosome Y during 2nd meiotic division so YY sperm when fertilizes an ovum carrying X chromosome give baby with XYY.

*Karyotype :-
47,XYY

* Clinical picture:-

• Tall stature
• Subnormal intelligence.
• Developmental delays.
• May show aggressive tendency or antisocial behavior.

Return to list of medical syndromes here

*References:-
- Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g75,76.

- Cri Du chat syndrome.

Cri Du chat syndrome

*Synonyms:-

• chromosome 5p deletion syndrome.
• 5p minus syndrome.
• Lejeune’s syndrome.

*Incidence:- rare.

*Pathophysiology:-
results from deletion of the distal short arm of chromosome no 5 (1).

*Karyotype :-
46,xx,5p-(female).
46,xy,5p-(male).
(5p- means that the short arm of chromosome 5 is shorter than normal).

*Clinical picture:-

• characteristic cry of affected infants, which is similar to that of cat ( i.e a high-pitched cry ) due to problems with the larynx and nervous system,about 1/3 of children lose the cry by age 2.
• feeding problems because of difficulty swallowing and sucking.
• low birth weight
• growth retardation.
• Mental retardation.
• hypotonia.
• microcephaly.
• cardiac defects (eg, ventricular septal defect [VSD],atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot).

*Treatment:-

• No specific treatment is available for this syndrome.
• The mental retardation must be addressed.

Return to list of medical syndromes here

*References:-
Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g74.

- Wolf-Hirschhorn Syndrome.

Wolf-Hirschhorn Syndrome

*Pathophysiology:-
results from deletion of the distal short arm of chromosome no 4 (1).

* Clinically, the minimal diagnostic criteria for Wolf-Hirschhorn syndrome (ie, ‘‘core’’ phenotype) consists of typical facial appearance , mental retardation, growth delay, hypotonia and seizures (or EEG anomalies)(2).

* Different categories of the Wolf-Hirschhorn syndrome phenotype are defined according to the extent of the chromosome.4 deletion(2):-

• 1st category :- caused by small deletion that is usually associated with a mild phenotype, lacking major malformations. This category is likely under-diagnosed.
• 2nd category :- caused by large deletions that cause the widely recognizable Wolf-Hirschhorn syndrome phenotype.
• 3rd category :- caused by very large deletions that cause a severe phenotype that can hardly be defined as typical Wolf-Hirschhorn syndrome.

* Factors affecting prognosis include (2):-

• extent of the deletion.
• occurrence of complex chromosome anomalies.
• severity of seizures.

*Karyotype (1):-
46,xx,4p-(female).
46,xy,4p-(male).
(4p- means that the short arm of chromosome 4 is shorter than normal).

* Clinical picture(3),(4):-

• Growth retardation.
• CNS:- Developmental delay and mental retardation of varying degree,microcephaly, seizures, congenital hypotonia with muscle hypotrophy particularly of the lower limbs.
• Skull:- Frontal bossing, high frontal hairline, hemangioma over forehead or glabella, scalp defect with or without underlying bony defect.
• Face:- Characteristic features including prominent glabella, hypertelorism, broad beaked nose, and frontal bossing, collectively described as "Greek warrior helmet" facies.
• Eyes:- Hypertelorism, down-slanting palpebral fissures, epicanthal folds, strabismus, coloboma, proptosis.
• Nose :- Broad or beaked nose, nasolacrimal duct stenosis or atresia
• Mouth:- Short upper lip, short philtrum, cleft lip or palate, bifid uvula, carplike mouth, micrognathia, retrognathia
• Teeth:- Hypodontia
• Ears:- Low-set ears; large, floppy, or misshapen ears; microtia; preauricular dimples; chronic otitis media with effusion; sensorineural hearing loss.
• Cardiovascular:- Atrial septal defect, ventricular septal defect.
• Pulmonary:- lung hypoplasia secondary to diaphragmatic hernia.
• GIT:- Diastasis recti, umbilical or inguinal hernias, accessory spleens, absent gallbladder, diaphragmatic hernia, intestinal malrotation.
• Genitourinary:- Hypoplastic kidneys, cystic dysplastic kidneys, unilateral renal agenesis, hydronephrosis, exstrophy of bladder, hypoplastic external genitalia.
• Skeletal:- Long slender fingers with additional flexion creases, long narrow chest, hypoplastic widely spaced nipples, hypoplasia or duplication of thumbs and great toes, hypoplasia of pubic bones.

Return to list of medical syndromes here

*References:-
(1) Principles of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g74.
(2) Zollino M, Murdolo M, Marangi G, et al. On the nosology and pathogenesis of
Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients
and literature review. Am J Med Genet C Semin Med Genet. Nov 15 2008;148C(4):257-69. [Medline].
(3)Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn (4p-) syndrome. Adv Pediatr. 2001;48:75-113. [Medline].
(4)South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet. Jan 2008;16(1):45-52. [Medline]. [Full Text].

- Chromosomal anomalies (aberrations).

- Defenition:-

is a deviation from the normal number (numerical aberrations)or the normal shape(morphology) of chromosomes(structural aberrations).

- Origin:-
(1)Chromosomal anomalies at germ cell level.


-It originates during the formation of germ cells.
-It present in all body cells.
-It appear in karyotyping.
-It may involve Autosomes or sex chromosomes.

*Anomalies involving Autosomes may be:-:-

• Numerical e.g Down´s syndrome (click here).
• Structural e.g Wolf-Hirschhorn Syndrome (click here),Cri-du-chat syndrome (click here).

*Anomalies involving sex chromosomes may be:-

• Numerical e.g YY syndrome (click here),Klinefelter's Syndrome (click here).
• Structural e.g Turner Syndrome (click here) , Multiple X syndrome.

(2)Chromosomal anomalies at somatic cell level.

-It originates during the formation of somatic cells.
-It present in certain cell population.
-It doesnot appear in karyotyping(i.e normal karyotype),but appear in karyotyping of the affected cells.
-It may involve Autosomes & may be:-

• Numerical e.g polyploidy,aneuploidy.
• Structural e.g philadelphia chromosome.

-Causes:-

• Teratogens.
• Pregnancy in old age.
• Family history of Chromosomal anomalies.

*References:-
-Priciples of histology vol1,staff members ,faculty of medicine,mansoura university,ch3,p.g70,71,72,78.