Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.

Abstract:

:A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q24.3). The concurrence of these two abnormalities is a rare event and has not been reported previously.

journal_name

J Med Genet

authors

Verma RS,Conte RA,Pitter JH,Luke S

doi

10.1136/jmg.29.1.66

keywords:

subject

Has Abstract

pub_date

1992-01-01 00:00:00

pages

66-7

issue

1

eissn

0022-2593

issn

1468-6244

journal_volume

29

pub_type

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