Deletion 2p15-16.1 syndrome: case report and review.

doi:10.1002/ajmg.a.33875

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Article

Deletion 2p15-16.1 syndrome: case report and review.

American journal of medical genetics. Part A - 1 Oct 2011

Prontera Paolo, Bernardini Laura, Stangoni Gabriela, Capalbo Anna, Rogaia Daniela, Romani Rita, Ardisia Carmela, Dallapiccola Bruno, Donti Emilio

Abstract excerpt

We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7) inv(7)(q21.1q32.1)t(1;7)(q23q32.1)]; and a 2p16.1 deletion, spanning about...

Topics

Abnormalities, Multiple
Child
Chromosome Deletion
Chromosome Inversion
Chromosomes, Human, Pair 2
Developmental Disabilities
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Polymorphism, Single Nucleotide
Syndrome
Translocation, Genetic

Source

Open in PubMed

Identifiers

PMID: 21910216
DOI: 10.1002/ajmg.a.33875

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