Brief clinical report: Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion

Norman L. Lehman, Dianna H. Zaleski, Warren G. Sanger, Edward D. Adickes

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

A female infant survived 5 1/2 hours after delivery at 33 weeks gestation. Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1→2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 deletion. Chromosome segment 2q37.1→2q37.3 may harbor yet another locus important in forebrain development, which, when disrupted, can lead to brain malformations within the HPE spectrum.

Original languageEnglish (US)
Pages (from-to)179-181
Number of pages3
JournalAmerican journal of medical genetics
Volume100
Issue number3
DOIs
StatePublished - May 1 2001

Fingerprint

Holoprosencephaly
Chromosome Deletion
Cytogenetic Analysis
Prosencephalon
Autopsy
Chromosomes
Pregnancy
Brain
Chromosome 2q37 deletion syndrome

Keywords

  • 2q37 deletion
  • Holoprosencephaly
  • Lobar variant

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Brief clinical report : Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion. / Lehman, Norman L.; Zaleski, Dianna H.; Sanger, Warren G.; Adickes, Edward D.

In: American journal of medical genetics, Vol. 100, No. 3, 01.05.2001, p. 179-181.

Research output: Contribution to journalArticle

Lehman, Norman L. ; Zaleski, Dianna H. ; Sanger, Warren G. ; Adickes, Edward D. / Brief clinical report : Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion. In: American journal of medical genetics. 2001 ; Vol. 100, No. 3. pp. 179-181.
@article{eacdb2f391554ba9b1a96faf3b02fc30,
title = "Brief clinical report: Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion",
abstract = "A female infant survived 5 1/2 hours after delivery at 33 weeks gestation. Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1→2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 deletion. Chromosome segment 2q37.1→2q37.3 may harbor yet another locus important in forebrain development, which, when disrupted, can lead to brain malformations within the HPE spectrum.",
keywords = "2q37 deletion, Holoprosencephaly, Lobar variant",
author = "Lehman, {Norman L.} and Zaleski, {Dianna H.} and Sanger, {Warren G.} and Adickes, {Edward D.}",
year = "2001",
month = "5",
day = "1",
doi = "10.1002/ajmg.1245",
language = "English (US)",
volume = "100",
pages = "179--181",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Brief clinical report

T2 - Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion

AU - Lehman, Norman L.

AU - Zaleski, Dianna H.

AU - Sanger, Warren G.

AU - Adickes, Edward D.

PY - 2001/5/1

Y1 - 2001/5/1

N2 - A female infant survived 5 1/2 hours after delivery at 33 weeks gestation. Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1→2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 deletion. Chromosome segment 2q37.1→2q37.3 may harbor yet another locus important in forebrain development, which, when disrupted, can lead to brain malformations within the HPE spectrum.

AB - A female infant survived 5 1/2 hours after delivery at 33 weeks gestation. Autopsy showed a lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37.1→2q37.3 deletion. This case represents the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparent isolated 2q37 deletion. Chromosome segment 2q37.1→2q37.3 may harbor yet another locus important in forebrain development, which, when disrupted, can lead to brain malformations within the HPE spectrum.

KW - 2q37 deletion

KW - Holoprosencephaly

KW - Lobar variant

UR - http://www.scopus.com/inward/record.url?scp=0035341275&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035341275&partnerID=8YFLogxK

U2 - 10.1002/ajmg.1245

DO - 10.1002/ajmg.1245

M3 - Article

C2 - 11343300

AN - SCOPUS:0035341275

VL - 100

SP - 179

EP - 181

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -