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

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
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 2005
Externally published	Yes

Keywords

Familial
Trisomy 16q
Y-autosome translocation

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10.1097/00019605-200510000-00002

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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.",

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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

Y1 - 2005/10

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 - https://www.scopus.com/pages/publications/25844445257

U2 - 10.1097/00019605-200510000-00002

DO - 10.1097/00019605-200510000-00002

M3 - Article

C2 - 16155418

AN - SCOPUS:25844445257

SN - 0962-8827

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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

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