American Journal of Medical Genetics · 2000 · 43 citations · 9 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AbnormalitiesClinical CytogeneticsGenetic LinkageMolecular CytogeneticsPrenatal CytogeneticsStructural Chromosome AbnormalitiesChromosomal DeletionsChromosome DeletionsChromosome MicrodeletionsInherited Chromosomal DisordersInterstitial Deletions
Familial transmission of cytogenetically visible autosome deletions is rare in humans. We describe here a case of mother to son transmission of an interstitial deletion of the distal long arm of chromosome one, breakpoints q42.1q42.3. This is the smallest described deletion of this region to date.
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DiGeorge syndrome: part of CATCH 22.
David I. Wilson, John Burn, Peter Scambler et al. · Journal of Medical Genetics · 1993 · 511 citations · Full text
Del (X)(p21.2) in a mother and two daughters with variable ovarian function
Andrew R. Zinn, Bing Ouyang, Judith L. Ross et al. · Clinical Genetics · 1997 · 93 citations
Prenatal diagnosis of chromosomal abnormalities through amniocentesis
L Y Hsu · Medical Entomology and Zoology · 1992 · 82 citations
Medicine, Genetics, Obstetrics +14