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Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq).

Publication ,  Journal Article
Wells, SR; Kuller, JA; Rao, KW; Aylsworth, AS
Published in: Clin Genet
April 1996

After ultrasound diagnosis of a fetus with severe hydrocephalus and Dandy-Walker malformation, amniocentesis revealed chromosomal mosaicism for dup(lq) and del(Xq). The neonate had dysmorphic facial features, vertebral abnormalities, and pulmonary hypoplasia, and expired shortly after birth. This report confirms the poor prognosis reported for partial trisomies involving the long arm of chromosome number 1.

Duke Scholars

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

April 1996

Volume

49

Issue

4

Start / End Page

216 / 219

Location

Denmark

Related Subject Headings

  • X Chromosome
  • Ultrasonography
  • Prenatal Diagnosis
  • Pregnancy
  • Mosaicism
  • Infant, Newborn
  • Hydrocephalus
  • Humans
  • Head
  • Genetics & Heredity
 

Citation

APA
Chicago
ICMJE
MLA
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Wells, S. R., Kuller, J. A., Rao, K. W., & Aylsworth, A. S. (1996). Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). Clin Genet, 49(4), 216–219. https://doi.org/10.1111/j.1399-0004.1996.tb03290.x
Wells, S. R., J. A. Kuller, K. W. Rao, and A. S. Aylsworth. “Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq).Clin Genet 49, no. 4 (April 1996): 216–19. https://doi.org/10.1111/j.1399-0004.1996.tb03290.x.
Wells SR, Kuller JA, Rao KW, Aylsworth AS. Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). Clin Genet. 1996 Apr;49(4):216–9.
Wells, S. R., et al. “Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq).Clin Genet, vol. 49, no. 4, Apr. 1996, pp. 216–19. Pubmed, doi:10.1111/j.1399-0004.1996.tb03290.x.
Wells SR, Kuller JA, Rao KW, Aylsworth AS. Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(lq) and del(Xq). Clin Genet. 1996 Apr;49(4):216–219.
Journal cover image

Published In

Clin Genet

DOI

ISSN

0009-9163

Publication Date

April 1996

Volume

49

Issue

4

Start / End Page

216 / 219

Location

Denmark

Related Subject Headings

  • X Chromosome
  • Ultrasonography
  • Prenatal Diagnosis
  • Pregnancy
  • Mosaicism
  • Infant, Newborn
  • Hydrocephalus
  • Humans
  • Head
  • Genetics & Heredity