A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe

M. G. Butler; V. G. Dev; J. A. Phillips; S. P. Tho; J. J. Trill; J. A. Tischfield; P. G. McDonough

doi:10.1016/S0015-0282(16)49658-5

A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe

M. G. Butler, V. G. Dev, J. A. Phillips, S. P. Tho, J. J. Trill, J. A. Tischfield, P. G. McDonough

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

4 Scopus citations

Abstract

We report a 4-month-old girl with normal length and weight, cleft lip and palate, congenital heart disease, and normal female genitalia. Chromosome studies indicated a mosaic 45,X/46,X, +frag pattern. Parental chromosomes were normal. Several chromosome banding procedures and, ultimately, deoxyribonucleic acid (DNA) studies were performed to identify the centric chromosome fragment.

Original language	English (US)
Pages (from-to)	718-720
Number of pages	3
Journal	Fertility and sterility
Volume	46
Issue number	4
DOIs	https://doi.org/10.1016/S0015-0282(16)49658-5
State	Published - 1986
Externally published	Yes

ASJC Scopus subject areas

Reproductive Medicine
Obstetrics and Gynecology

Access to Document

10.1016/S0015-0282(16)49658-5

Cite this

@article{ccd7b102378d442db6d1d9efcfad0e42,

title = "A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe",

abstract = "We report a 4-month-old girl with normal length and weight, cleft lip and palate, congenital heart disease, and normal female genitalia. Chromosome studies indicated a mosaic 45,X/46,X, +frag pattern. Parental chromosomes were normal. Several chromosome banding procedures and, ultimately, deoxyribonucleic acid (DNA) studies were performed to identify the centric chromosome fragment.",

author = "Butler, {M. G.} and Dev, {V. G.} and Phillips, {J. A.} and Tho, {S. P.} and Trill, {J. J.} and Tischfield, {J. A.} and McDonough, {P. G.}",

year = "1986",

doi = "10.1016/S0015-0282(16)49658-5",

language = "English (US)",

volume = "46",

pages = "718--720",

journal = "Fertility and sterility",

issn = "0015-0282",

publisher = "Elsevier Inc.",

number = "4",

}

TY - JOUR

T1 - A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe

AU - Butler, M. G.

AU - Dev, V. G.

AU - Phillips, J. A.

AU - Tho, S. P.

AU - Trill, J. J.

AU - Tischfield, J. A.

AU - McDonough, P. G.

PY - 1986

Y1 - 1986

N2 - We report a 4-month-old girl with normal length and weight, cleft lip and palate, congenital heart disease, and normal female genitalia. Chromosome studies indicated a mosaic 45,X/46,X, +frag pattern. Parental chromosomes were normal. Several chromosome banding procedures and, ultimately, deoxyribonucleic acid (DNA) studies were performed to identify the centric chromosome fragment.

AB - We report a 4-month-old girl with normal length and weight, cleft lip and palate, congenital heart disease, and normal female genitalia. Chromosome studies indicated a mosaic 45,X/46,X, +frag pattern. Parental chromosomes were normal. Several chromosome banding procedures and, ultimately, deoxyribonucleic acid (DNA) studies were performed to identify the centric chromosome fragment.

UR - http://www.scopus.com/inward/record.url?scp=0022970681&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022970681&partnerID=8YFLogxK

U2 - 10.1016/S0015-0282(16)49658-5

DO - 10.1016/S0015-0282(16)49658-5

M3 - Article

C2 - 3019787

AN - SCOPUS:0022970681

SN - 0015-0282

VL - 46

SP - 718

EP - 720

JO - Fertility and sterility

JF - Fertility and sterility

IS - 4

ER -

A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this