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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- Bianchi D W, Nicholls R D, Russell K A, Miller W A, Ellin M, Lage J M: Pericentric inversion of chromosome 16 in a large kindred: spectrum of morbidity and mortality in offspring. AJMG 43:791-795, 1992. [PubMed: 1642263]Individual III-12.46,XX,rec(16)dup(q22-q24)inv(16)(p13q22).Individual III-17.46,XY,rec(16)dup(q22-24)inv(16)(p13q22)mat.Proband III-6.46,XY,der inv(16)(p13q22)mat.&46,XX or XY,inv(16)(p13q22).Aberration: PI,REChromosomal Aneuploidy: 16q+Negative band
- Same entry as in 01q120,02p210,04q220,04q310,07q210,11q130 (Boue and Gallano, 1984).
- Chodirker B N, Ray M, McAlpine P J, Riordan D, Vust A, Pugh D, Chudley A E: Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16. AJMG 31:145-151, 1988. [PubMed: 2464927]K.H. was 3 1/2 years old.mos46,XX,r(16)/45,XX,-r(16).Parental chromosomes were normal.Aberration: Ring chromosomeNegative band
- Duncan A, Price E, 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. 1058.46,XY,t(16;22)(p13;q13)pat.Aberration: Reciprocal translocationNegative band
- Giles R H, Dauwerse H G, van Ommen G-J B, Breuning M H.: Do human chromosomal bands 16p13 and 22q11-13 share ancestral origins? AJHG 63:1240-1242, 1998. [PMC free article: PMC1377477] [PubMed: 9758602]Based on paralogous genes mapped to these two bands, the interesting hypothesis of Dr. Susumo Ohno, duplications in the human genome, is supported.Index Terms: Ancestral origin...of bands
- Golden N L, Bilenker R, Johnson W E, Tischfield J A: Abnormality of chromosome 16 and its phenotypic expression. Clin. Genet. 19:41-45, 1981. [PubMed: 7460380]Patient, died after 2 years, had growth and psychomotor retardation, midfacial hypoplasia and skeletal abnormalities.46,XY,16p+.Index Terms: Midface hypoplasiaNegative band
- He W, Tuck-Muller C M, Martinez J E, Li S, Rowley E R, Wertelecki W.: Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts. AJMG DOI=10.1002/ajmg.10091;107:12-17, 2002. [PubMed: 11807861]Patient A.E. is a 4-month-old with severe growth and developmental failure.46,XX,r(16)(?p13?q24)de novo[98]/47,XX,r(16),+r(16)[2]/45,XX-18[1]Aberration: Ring chromosomeMIM#: 156850Index Terms: Cataracts bilateral
- Same entry as in 01q210,05q200 (Jacobs et al, 1974).
- Petrus M, Bourrouillou G, Dutau G, Colombies P, Rochiccioli P: "Association male XX, Pierre, Robin syndrome in a child whose father presents, equilibrated translocation 46 XY,t(16;17)(p13;q21)." J. Genet. Hum. 29:191-196, 1981. [PubMed: 7199077]Aberration: Reciprocal translocationMIM#: 261800Index Terms: Pierre Robin syndromeNegative band
- Shabtai F, Orlin J, Hart J, Halbrecht I, Klar D, Friedman J: "Different inducibility and possible significance of several concomitant ""fragile sites"" in two brothers." Hum. Genet. 74:85-89, 1986. [PubMed: 3019870]Aberration: Fragile sitesNegative band
- Stallings R L, Bianchi D W: FISH mapping of a human chromosome 16 constitutional pericentric inversion inv(16)(p13q22) found in a large kindred. AJMG 52:346-348, 1994. [PubMed: 7810567]46,XX and XY,inv(16)(p13q22).Aberration: Inversion pericentricNegative band
- Varella-Garcia M, de Toledo Gagliardi A R, Tajara E H: "De novo balanced reciprocal translocation 46,XX,t(16;22)(p13;q11) in a dysmorphic female." Brazil. J. Genet. 3:41-51, 1980.Patient APF, 000876, was 12 months old and had multiple congenital anomalies. Parents had normal chromosomes.Aberration: Reciprocal translocationNegative band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XX,inv(16)(p13q22).Data from UCLA, California, NY.46,XX,inv(16)(p13q11).IUGR, cardiac defects, seizures, and severe MR at 6 years.Aberration: Inversion pericentricNegative band
- Wuu K D, Lai H C, Wuu S W, Hwang B: A chromosomal survey of mentally retarded children in Taipei. III. A severely mentally retarded boy with ring chromosome 16. Proc. Nat. Sci. Coun. (Part A) 5:243-246, 1981.Patient T. L. was 14 1/2 years old.46,XY,r(16).Aberration: Ring chromosomeNegative band
- 16p130 - Chromosomal Variation in Man16p130 - Chromosomal Variation in Man
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