Monosomy 5p
National Institutes of Health
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Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and…
A recent contribution by Puvabanditsin et al. in Genetic Counseling described a female with distal short arm of chromosome…
We describe a patient who had multiple malformations including ventriculomegaly, colpocephaly, corpus callosum, cerebellum and…
The fetus was the 1096-g product of 28-week gestation in a 31-yearold, gravida 2, para 1, mother who had undergone amniocentesis…
We report on a fetus with radiographic features of Larsen Syndrome (LS) and unbalanced 3;5 translocation. Recently LS was shown…
Adzick NS, Harrison MR, Crombleholme TM, Flake AW, Howell LJ. 1998. Fetal lung lesion: management and outcome. Am J Obstet…
We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation…
A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial…
SummaryA male infant with karyotype 46,XY,rec(5),dup q,inv(5)(p15.1 q35.1)pat is presented. The proband showed growth and…
Translocation between chromosomes 4q and 5p has been observed in 12 members of a family. Multiple deaths occurred in early…