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Article

Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability.

Taiwanese journal of obstetrics & gynecology - 1 Aug 2018

Chen Chih-Ping, Chern Schu-Rern, Wu Peih-Shan, Chen Shin-Wen, Lai Shih-Ting, Chuang Tzu-Yun, Chen Wen-Lin, Yang Chien-Wen, Wang Wayseen

Abstract excerpt

OBJECTIVE: We present prenatal diagnosis of a 2p16.1-p15 duplication associated with familial intellectual disability, and we discuss the genotype-phenotype correlation. CASE REPORT: A 22-year-old, primigravid woman underwent amniocentesis at 22 weeks of gestation because of a family history of intellectual disability. The woman and her two sisters had intellectual disability but no behavioral disorders. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30122582
DOI: 10.1016/j.tjog.2018.06.018

Genes

FANCL
PAPOLG
PEX13
PUS10
REL
USP34
VRK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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