Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies

G. Higginson, David Weaver, R. E. Magenis, G. H. Prescott, C. Haag, D. J. Hepburn

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Original languageEnglish (US)
Pages (from-to)307-312
Number of pages6
JournalClinical Genetics
Volume10
Issue number5
StatePublished - 1976
Externally publishedYes

Fingerprint

Micrognathism
Muscle Hypotonia
Congenital Heart Defects
Cheek
Eyelids
Chromosome Aberrations
Ear
Mouth
Seizures
Hand
Chromosomes
Mothers
Bone and Bones

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Higginson, G., Weaver, D., Magenis, R. E., Prescott, G. H., Haag, C., & Hepburn, D. J. (1976). Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies. Clinical Genetics, 10(5), 307-312.

Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies. / Higginson, G.; Weaver, David; Magenis, R. E.; Prescott, G. H.; Haag, C.; Hepburn, D. J.

In: Clinical Genetics, Vol. 10, No. 5, 1976, p. 307-312.

Research output: Contribution to journalArticle

Higginson, G, Weaver, D, Magenis, RE, Prescott, GH, Haag, C & Hepburn, DJ 1976, 'Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies', Clinical Genetics, vol. 10, no. 5, pp. 307-312.
Higginson, G. ; Weaver, David ; Magenis, R. E. ; Prescott, G. H. ; Haag, C. ; Hepburn, D. J. / Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies. In: Clinical Genetics. 1976 ; Vol. 10, No. 5. pp. 307-312.
@article{a6234b1cd3f04ff69f9badc1f320c9ee,
title = "Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies",
abstract = "An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.",
author = "G. Higginson and David Weaver and Magenis, {R. E.} and Prescott, {G. H.} and C. Haag and Hepburn, {D. J.}",
year = "1976",
language = "English (US)",
volume = "10",
pages = "307--312",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "5",

}

TY - JOUR

T1 - Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies

AU - Higginson, G.

AU - Weaver, David

AU - Magenis, R. E.

AU - Prescott, G. H.

AU - Haag, C.

AU - Hepburn, D. J.

PY - 1976

Y1 - 1976

N2 - An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

AB - An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

UR - http://www.scopus.com/inward/record.url?scp=0017102680&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0017102680&partnerID=8YFLogxK

M3 - Article

VL - 10

SP - 307

EP - 312

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 5

ER -