Trisomy 9 mosaicism with multiple congenital anomalies

R. H A Haslam, S. P. Broske, C. M. Moore, G. H. Thomas, C. A. Neill

Research output: Contribution to journalArticle

46 Citations (Scopus)

Abstract

A nine year old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+q). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.

Original languageEnglish (US)
Pages (from-to)180-184
Number of pages5
JournalJournal of Medical Genetics
Volume10
Issue number2
StatePublished - 1973
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 9
Muscle Hypotonia
Patent Ductus Arteriosus
Ventricular Heart Septal Defects
Intellectual Disability
Brain
Trisomy mosaic Chromosome 9

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., & Neill, C. A. (1973). Trisomy 9 mosaicism with multiple congenital anomalies. Journal of Medical Genetics, 10(2), 180-184.

Trisomy 9 mosaicism with multiple congenital anomalies. / Haslam, R. H A; Broske, S. P.; Moore, C. M.; Thomas, G. H.; Neill, C. A.

In: Journal of Medical Genetics, Vol. 10, No. 2, 1973, p. 180-184.

Research output: Contribution to journalArticle

Haslam, RHA, Broske, SP, Moore, CM, Thomas, GH & Neill, CA 1973, 'Trisomy 9 mosaicism with multiple congenital anomalies' Journal of Medical Genetics, vol. 10, no. 2, pp. 180-184.
Haslam RHA, Broske SP, Moore CM, Thomas GH, Neill CA. Trisomy 9 mosaicism with multiple congenital anomalies. Journal of Medical Genetics. 1973;10(2):180-184.
Haslam, R. H A ; Broske, S. P. ; Moore, C. M. ; Thomas, G. H. ; Neill, C. A. / Trisomy 9 mosaicism with multiple congenital anomalies. In: Journal of Medical Genetics. 1973 ; Vol. 10, No. 2. pp. 180-184.
@article{5a755352e8884dde814a90668996d408,
title = "Trisomy 9 mosaicism with multiple congenital anomalies",
abstract = "A nine year old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+q). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.",
author = "Haslam, {R. H A} and Broske, {S. P.} and Moore, {C. M.} and Thomas, {G. H.} and Neill, {C. A.}",
year = "1973",
language = "English (US)",
volume = "10",
pages = "180--184",
journal = "Shock",
issn = "1073-2322",
publisher = "BMJ Publishing Group",
number = "2",

}

TY - JOUR

T1 - Trisomy 9 mosaicism with multiple congenital anomalies

AU - Haslam, R. H A

AU - Broske, S. P.

AU - Moore, C. M.

AU - Thomas, G. H.

AU - Neill, C. A.

PY - 1973

Y1 - 1973

N2 - A nine year old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+q). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.

AB - A nine year old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY/47,XY,+q). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.

UR - http://www.scopus.com/inward/record.url?scp=0015834318&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0015834318&partnerID=8YFLogxK

M3 - Article

VL - 10

SP - 180

EP - 184

JO - Shock

JF - Shock

SN - 1073-2322

IS - 2

ER -