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Titel:

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Hempel, M; Rivera Brugués, N; Wagenstaller, J; Lederer, G; Weitensteiner, A; Seidel, H; Meitinger, T; Strom, TM
Abstract:
The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p1...     »
Zeitschriftentitel:
Am J Med Genet A
Jahr:
2009
Band / Volume:
149A
Heft / Issue:
10
Seitenangaben Beitrag:
2106-12
Sprache:
eng
Volltext / DOI:
doi:10.1002/ajmg.a.33042
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/19676056
Print-ISSN:
1552-4825
TUM Einrichtung:
Institut für Humangenetik
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