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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Chen Z, Grebe T A, Guan X Y, Notohamiprodjo M, Nutting P J, Stone J F, Trent J M, Sandberg A A.: Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection. AJMG 71:160-166, 1997. [PubMed: 9217215]Patient A.A. was being seen because of chromosome abnormality [46,XY,der(1)t(1;?)(p36.1;;)] at the age of 9 months.46,XY,der(1)t(1;4)(p36.13;q33)mat.,Mother:46,XX,der(1)t(1;4)(4qter->4q33::1p36.13-1qter),,der(4)t(1;4)inv(4)(4pter->4q31.3::1p36.33->1p36.13::,4q33->4q31.3::1p36.33->1pter).The patient''s phenotype is compared with other patients with dup(4q) and del(1)(p36).Issues related to genetic counseling are discussed.Aberration: Inverted insertions between chromosomesChromosomal Aneuploidy: 1p-;4q+Index Terms: Microdissection chromosome
- Fan Y-S, Jung J, Hamilton B.: Small terminal deletion of 1p and duplication of 1q: cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years. AJMG 86:118-123, 1999. [PubMed: 10449645]46,XY,der(1)(qter->p36.13::q42.3->qter)Initial karyotyping was done, 16 years ago, on a newborn baby, with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. At 16 years of age, the patient showed marked psychomotor delay, severely accentuated dorsal kyphosis and scoliosis, and pectus excavatum.Aberration: TD,DUChromosomal Aneuploidy: 1p-;1q+
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