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Article

Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene.

Fetal diagnosis and therapy - 1 Jan 2007

Peng Hsiu-Huei, Kuo Pao-Lin, Chao An-Shine, Wang Tzu-Hao, Chang Yao-Lung, Soong Yung-Kuei, Chang Shuenn-Dyh

Abstract excerpt

We present a 30-year-old woman with a twin pregnancy, 1 fetus displaying a small head circumference, semilobar holoprosencephaly, and cleft lip as detected by ultrasound at 23 weeks of gestation. Fetal magnetic resonance imaging confirmed the diagnosis of semilobar holoprosencephaly. The other tw...

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Share to Abortion, Eugenic
Share to Chromosome Inversion
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17556830
DOI: 10.1159/000103302

Genes

SHH
SNRPN
SIX3
ZIC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17556830-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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