[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]

A Sempere Pérez; I Manchón Trives; I Palazón Azorín; L Alcaraz Más; E Pérez Lledó; F Galán Sánchez

doi:10.1016/j.anpedi.2011.01.033

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]

An Pediatr (Barc). 2011 Jul;75(1):58-62. doi: 10.1016/j.anpedi.2011.01.033. Epub 2011 Mar 17.

[Article in Spanish]

Authors

A Sempere Pérez¹, I Manchón Trives, I Palazón Azorín, L Alcaraz Más, E Pérez Lledó, F Galán Sánchez

Affiliation

¹ Neuropediatría, Hospital General Universitario, Alicante, España.

PMID: 21419731
DOI: 10.1016/j.anpedi.2011.01.033

Abstract

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.

Publication types

Case Reports
English Abstract

MeSH terms

Child, Preschool
Chromosome Aberrations*
Chromosomes, Human, Pair 15
Humans
Intellectual Disability
Male
Psychomotor Disorders / genetics*
Syndrome

Supplementary concepts

Duplication 15q11-q13 Syndrome