A Y/15 translocation in a 45,X male with Prader-Willi syndrome

Surasak Puvabanditsin; E. Garrow; S. Razi; A. G. Mohar; J. J. Tadros; N. Phattraprayoon; P. Patel

A Y/15 translocation in a 45,X male with Prader-Willi syndrome

Surasak Puvabanditsin, E. Garrow, S. Razi, A. G. Mohar, J. J. Tadros, N. Phattraprayoon, P. Patel

Robert Wood Johnson Medical School (RWJMS), Pediatrics, Division of Neonatology

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

1 Scopus citations

Abstract

We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case of monosomy 15q and Yq deletion with Prader-Willi syndrome.

Original language	English (US)
Pages (from-to)	417-421
Number of pages	5
Journal	Genetic Counseling
Volume	18
Issue number	4
State	Published - 2007

All Science Journal Classification (ASJC) codes

Genetics(clinical)

Keywords

Neonate
Partial monosomy 15q
Prader-Willi syndrome
Y/autosomal translocation
Yq deletion

Cite this

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title = "A Y/15 translocation in a 45,X male with Prader-Willi syndrome",

abstract = "We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case of monosomy 15q and Yq deletion with Prader-Willi syndrome.",

keywords = "Neonate, Partial monosomy 15q, Prader-Willi syndrome, Y/autosomal translocation, Yq deletion",

author = "Surasak Puvabanditsin and E. Garrow and S. Razi and Mohar, {A. G.} and Tadros, {J. J.} and N. Phattraprayoon and P. Patel",

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T1 - A Y/15 translocation in a 45,X male with Prader-Willi syndrome

AU - Puvabanditsin, Surasak

AU - Garrow, E.

AU - Razi, S.

AU - Mohar, A. G.

AU - Tadros, J. J.

AU - Phattraprayoon, N.

AU - Patel, P.

PY - 2007

Y1 - 2007

N2 - We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case of monosomy 15q and Yq deletion with Prader-Willi syndrome.

AB - We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case of monosomy 15q and Yq deletion with Prader-Willi syndrome.

KW - Neonate

KW - Partial monosomy 15q

KW - Prader-Willi syndrome

KW - Y/autosomal translocation

KW - Yq deletion

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VL - 18

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JO - Journal de Genetique Humaine

JF - Journal de Genetique Humaine

SN - 1015-8146

IS - 4

ER -

A Y/15 translocation in a 45,X male with Prader-Willi syndrome

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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