Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Genet. 2001 Aug 1;102(2):169-72.

Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation.

Author information

1
Institute for Human Genetics, University of Leipzig, Leipzig, Germany.

Abstract

A 12-year 9-month-old boy with postnatal growth retardation, normal psychomotor development, and minor anomalies that included a triangular-shaped face, small nose, and narrow and high-arched palate is reported. The constitutional karyotype was 46,XY,i(7)(p10),i(7)(q10). Molecular investigations revealed the presence of a maternal isodisomy 7q and a paternal isodisomy 7p. The clinical and molecular findings are notably congruent with a recently reported case and support the hypothesis of one or more maternally imprinted genes located on the long arm of chromosomes 7 that regulate, in particular, postnatal growth.

PMID:
11477611
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center