Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation.

Abstract:

:18p deletion syndrome can be easily missed in a clinical setting as the facial features, though typical, can be overlooked and the other features including growth retardation and learning disability are nonspecific. We present a family in which the proband has 18p deletion syndrome. The proband performed better on verbal skills than on performance tasks on intelligence testing. She had attention-deficit hyperactivity disorder, which required medication and behavioral therapy. Subsequent cytogenetic analysis in her elder brother who presented with learning difficulties showed partial trisomy 18p and the maternal karyotype is 46, XX,(15;18)(p11.2;p11.2). This is the first report of a family with a balanced maternal translocation resulting in 18p deletion in one sibling and 18p partial trisomy in the other.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Koshy B,Mandal K,Srivastava VM,Loius PT,Danda S

doi

10.1097/MCD.0b013e328343b9b9

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

148-51

issue

3

eissn

0962-8827

issn

1473-5717

journal_volume

20

pub_type

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