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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- Barratt P J, Juberg R C, Fritz M A, Holliday D J: "Fetal death associated with a t(1;14) in three generations." AJMG(Suppl.) 3:157-160, 1987. [PubMed: 3130850]46,XX or XY,der(1),der(14),t(1;14)(p32.3;q32.1)mat or pat.Aberration: Reciprocal translocationNegative band
- Estop A M, Bansal V, Lin A, Levinson F, Karlin S M, Surti U, Wenger S L, Steele M W: Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes. AJMG 49:410-413, 1994. [PubMed: 8160735]Case 1:46,XY,der inv(1)(p32.3p36.22)mat.Mother has normal phenotype. The 5 year old was evaluated for fragile-X syndrome and has mild MCA.Case from Dr. Wenger''s institution.Aberration: Inversion paracentricNegative band
- Warden C R, Pillers D-A M, Rice M J, Wildes J, Livingston J S, Clark B A, Gilhooly J T, Magenis R E.: Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations. AJMG 101:100-105, 2001. [PubMed: 11391651]46,XY,inv dup(1)(qter->p34.3::p34.3->p32.3::p34.3->pter).The newborn also had co-existing portal and pulmonary hypertension.Aberration: DuplicationChromosomal Aneuploidy: 1p+No band
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