Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.

doi:10.1016/j.tjog.2014.01.005

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Article

Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.

Taiwanese journal of obstetrics & gynecology - 1 Dec 2014

Tonni Gabriele, Lituania Mario, Chitayat David, Bonasoni Maria Paola, Keating Sarah, Thompson Megan, Shannon Patrick

Abstract excerpt

OBJECTIVE: Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in this chromosomal abnormality. CASE REPORT: The first fetus investigated showed Dandy-Walker malformation, cleft lip,...

Topics

Abnormalities, Multiple
Abortion, Eugenic
Adult
Cardiovascular Abnormalities
Chromosomes, Human, Pair 9
Cleft Lip
Cleft Palate
Dandy-Walker Syndrome
Female
Humans
Phenotype
Pregnancy
Pregnancy Trimester, Second

Source

Open in PubMed

Identifiers

PMID: 25510707
DOI: 10.1016/j.tjog.2014.01.005

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Prenatal Diagnosis

Trisomy