[A case of mosaic ring chromosome 4 with subtelomeric 4p deletion].

[wolf-hirschhorn syndrome]

Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome . Wolf-Hirschhorn syndrome (WHS ) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm . Here we report a 10 -month -old male of mosaic ring chromosome 4 with the chief complaint of severe short stature . He showed the height of -4 standard deviation , subtle hypothyroidism and mild atrial septal defect /ventricular septal defect , and also a mild language developmental delay was suspected . Brain magnetic resonance imaging showed multifocal leukomalacia . Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46 ,XY ,r (4 )(p 16 q 35 )[84 ]/45 ,XY ,-4 [9 ]/91 ,XXYY , dic r (4 ;4 )(p 16 q 35 ;p 16 q 35 )[5 ]/46 ,XY ,dic r (4 ;4 )(p 16 q 35 ;p 16 q 35 )[2 ]]. FISH study showed the deletion of the 4 p subtelomeric region with the intact 4 q subtelomeric and WHS region . Both paternal and maternal karyotypes were normal . We compared the phenotypic variation with the previously reported cases of ring chromosome 4 . The ring chromosome 4 with the subtelomeric deletion of short arm seems to be related with the phenotype of short stature .

Diseases
Validation

Diseases presenting "short stature" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aromatase deficiency

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

dentinogenesis imperfecta

fabry disease

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

monosomy 21

oculocutaneous albinism

oligodontia

omenn syndrome

proteus syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated