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
NLM
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.
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