Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion.

[wolf-hirschhorn syndrome]

To present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS ) associated with microduplications at 8 p and 10 p in a fetus with an apparently pure 4 p deletion .A 35 -year -old gravida 2 , para 1 woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age . Her husband was 38 years of age . There was no family history of congenital malformations . Amniocentesis revealed a karyotype of 46 ,XY ,del (4 p 16 .1 ). The parental karyotypes were normal . Array comparative genomic hybridization (aCGH ) analysis revealed a 6 .5 -Mb deletion at 4 p 16 .3 -p 16 .1 , a 1 .2 -Mb microduplication at 8 p 22 -p 21 .3 , and a 1 .1 -Mb microduplication at 10 p 15 .3 , or arr cgh 4 p 16 .3 p 16 .1 (0 -6 ,531 ,998 bp )×1 , 8 p 22 p 21 .3 (18 ,705 ,388 -19 ,940 ,445 bp )×3 , 10 p 15 .3 (0 -1 ,105 ,065 bp )×3 . Polymorphic DNA marker analysis confirmed a paternal origin of 4 p deletion . Prenatal ultrasound revealed facial dysmorphism and hypospadias . The aCGH analysis of the parents revealed no genomic imbalance . Fluorescence in situ hybridization study showed an unbalanced reciprocal translocation between chromosomes 4 and 10 at bands 4 p 16 .1 and 10 p 15 .3 . The cytogenetic result , thus , was 46 ,XY ,der (4 )t (4 ;10 )(p 16 .1 ;p 15 .3 ),dup (8 )(p 21 .3 p 22 ). The parents elected to terminate the pregnancy , and a 470 -g malformed fetus was delivered .The present case provides evidence that an apparently pure 4 p deletion can be associated with subtle chromosome imbalances in other chromosomes .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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