A Case of de Novo Interstitial Deletion 16(Q13q22) / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 304-308, 2002.
Article
in Korean
| WPRIM
| ID: wpr-112967
ABSTRACT
Deletion of the long arm of chromosome 16 is uncommon. The causes of deletion are two one is unbalanced translocation and the other is de novo deletion. In our case, a baby was born with characteristics of the deletion of the long arm of chromosome 16 distinct craniofacial dysmorphism, mild hydrocephalus, ventriculoseptal defect, coarctation of aorta, short neck, low set, small and posterially rotated ears and shortening of long bones. High resolution GTG and RBG banding analyses revealed a karyotype 46, XY, del(16)(q13q22) de novo.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Aortic Coarctation
/
Arm
/
Chromosomes, Human, Pair 16
/
Ear
/
Karyotype
/
Hydrocephalus
/
Neck
Language:
Korean
Journal:
Korean Journal of Perinatology
Year:
2002
Type:
Article
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