Phenotypic features of a boy with trisomy of 16q22→qter due to paternal Y; 16 translocation

Fern Tsien; Eva Morava; Aimee Talarski; Michael Marble

doi:10.1097/00019605-200510000-00002

Phenotypic features of a boy with trisomy of 16q22→qter due to paternal Y; 16 translocation

Fern Tsien, Eva Morava, Aimee Talarski, Michael Marble

Medical Genetics

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.

Original language	English (US)
Pages (from-to)	177-181
Number of pages	5
Journal	Clinical Dysmorphology
Volume	14
Issue number	4
DOIs	https://doi.org/10.1097/00019605-200510000-00002
State	Published - Oct 1 2005

Keywords

Familial
Trisomy 16q
Y-autosome translocation

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Anatomy
Pathology and Forensic Medicine
Genetics(clinical)

Access to Document

10.1097/00019605-200510000-00002

Cite this

@article{6e0056b8b99545e78a4030cd33c89db4,

title = "Phenotypic features of a boy with trisomy of 16q22→qter due to paternal Y; 16 translocation",

abstract = "We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.",

keywords = "Familial, Trisomy 16q, Y-autosome translocation",

author = "Fern Tsien and Eva Morava and Aimee Talarski and Michael Marble",

year = "2005",

month = oct,

day = "1",

doi = "10.1097/00019605-200510000-00002",

language = "English (US)",

volume = "14",

pages = "177--181",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins",

number = "4",

}

TY - JOUR

T1 - Phenotypic features of a boy with trisomy of 16q22→qter due to paternal Y; 16 translocation

AU - Tsien, Fern

AU - Morava, Eva

AU - Talarski, Aimee

AU - Marble, Michael

PY - 2005/10/1

Y1 - 2005/10/1

N2 - We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.

AB - We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.

KW - Familial

KW - Trisomy 16q

KW - Y-autosome translocation

UR - http://www.scopus.com/inward/record.url?scp=25844445257&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=25844445257&partnerID=8YFLogxK

U2 - 10.1097/00019605-200510000-00002

DO - 10.1097/00019605-200510000-00002

M3 - Article

C2 - 16155418

AN - SCOPUS:25844445257

SN - 0962-8827

VL - 14

SP - 177

EP - 181

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 4

ER -

Phenotypic features of a boy with trisomy of 16q22→qter due to paternal Y; 16 translocation

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this