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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- Same entry as in 01q210,02q370,07q360,11q130 (Boue and Gallano, 1984).
- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(16;21)(p11;q22); t(16;21)(p11;q223).Aberration: Reciprocal translocationNo band
- Cohen M M, Lerner C, Balkin N E: Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment. AJMG 14:89-96, 1983. [PubMed: 6829613]46,XX,ins(16)(p13p11q13).&46,XX and XY,der ins(16)(p13p11q13)mat and pat.&46,XX and XY, rec(16) dup(p13p11) ins(16)(p13p11q13)mat.Aberration: Inverted insertions within a chromosomeNo band
- Fonatsch C: New chromosome polymorphism: inv(16) (p11q12 or q13). Cytogenet. Cell Genet. 18:106-107, 1977. [PubMed: 862430]13 year old proband karyotyped because of hypogenitalism.46,XY,inv(16)(p11q12 or q13).&46,XY,der inv(16)(p11q12 or q13)pat.Aberration: Inversion pericentricIndex Terms: Genitalia ... hypogenitalismNo band
- Geraedts J P M, Leschot N J, Veenema H: "Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree." Clin. Genet. 28:36-41, 1985. [PubMed: 4028499]46,XX or XY,t(16;21)(p11;q22).&"The most consistant features of this syndrome are: low birth weight, small head circumference, low-set ears, potato (gnattio) schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. A total of 30 balanced carriers in this family. Six abnormals: 46,XX or XY,-21,+der(21)t(16;21)(21pter -> 21q22::16p11 -> 16pter)."Aberration: Reciprocal translocationIndex Terms: Ears ... low-set,Fingers ... overlapping,Head ... small deformities,Hypertonia,Micrognathia,Thumbs ... agenesis,Thumbs ... hypoplastic,Umbilical artery ... singleNo band
- Miller K: Pericentric inversion 16 in man-a second case. Clin. Genet. 29:181-182, 1986. [PubMed: 3955873]46,XX,inv(16)(p11q12).Aberration: Inversion pericentricNo band
- Roberts S H, Duckett D P: Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16. J. Med. Genet. 15:375-381, 1978. [PMC free article: PMC1013735] [PubMed: 739528]46,XX,t(16;21)(p11;q22.3).,46,XX,-21,+der(21)t(16;21)(21pter->21q22.3::16p11->16pter)mat.,The patient, who lived for 10 months, had multiple congenital anomalies including single umbilical artery, small pelvis, hypoplastic mandible, and asymmetry of the ears.Aberration: Simple translocationIndex Terms: Ears ... asymmetry,Mandible ... small,Pelvis ... small,Umbilical artery ... singleNo band
- Rochat M K, Riegel M, Schinzel A A.: Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review. AJMG Part A: 143A: 399-408, 2007. [PubMed: 17230490]Mother=46,XX,t(2;16)(q36;p11).,46,XY,der(2)t(2;16)(q36;p11)mat.The patient had profound psychomotor retardation and features of 16p trisomy.Aberration: Simple translocationChromosomal Aneuploidy: 16p+
- Schmidt R, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1316.46,XX,inv(16)(p11q11)pat.Aberration: Inversion pericentricNo band
- Tho S P T, Byrd J R, McDonough P G: Chromosome polymorphism in 110 couples with reproductive failure and subsequent pregnancy outcome. Fert. Ster. 38:688-694, 1982. [PubMed: 7141010]46,XX,der inv(16)(p11q24)mat.Case 19.46,XX,inv(16)(p11q24).Aberration: Inversion pericentricNo band
- Ward B E, Bradley C M, Cooper J B, Robinson A: Homodicentric chromosomes: a distinctive type of dicentric chromosome. J. Med. Genet. 18:54-58, 1981. [PMC free article: PMC1048659] [PubMed: 7252999]Case 1; 10 months old, with head circumference and weight below the 3rd percentile, hypotonia, right facial hemihypertrophy, persistent ductus arteriosus, bilateral transpalmer creases, abnormal gross motor movements, and developmental delay. Parental chromosomes were normal.46,XX,-16,+dic(16)(pter -> cen -> q23::p11 -> qter).Aberration: Dicentric chromosomeIndex Terms: Face ... asymmetric (hemi hypertrophy),Head ... small deformities,Hemihypertrophy,HypotoniaNo band
- 16p110 - Chromosomal Variation in Man16p110 - Chromosomal Variation in Man
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