Partial trisomy 16q resulting from maternal translocation
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A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described.Abstract:
A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation is described. Karyotype: 46,XY,-22,der(22),t(16;22)(q21;p12)mat.read more
Citations
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Journal ArticleDOI
Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review
Andrew O.M. Wilkie,F. M. Campbell,Piers E.F. Daubeney,D. B. Grant,R. J. Daniels,M. Mullarkey,Nabeel A. Affara,M. Fitchett,S. M. Huson +8 more
TL;DR: Terminal 10q deletions appear to be strongly associated with abnormal male genital development, and should be specifically searched for in the cytogenetic workup of such cases.
Journal ArticleDOI
Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies : Molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503)
Constantine A. Stratakis,Antony R Lafferty,Susan E. Taymans,Rachel I Gafni,Jeanne M. Meck,Jan Blancato +5 more
TL;DR: Molecular cytogenetics, including fluorescence in situ hybridization and densitometric analysis of amplified polymorphic sequence-tagged sites (STS) mapping to 16q suggested that the duplication was on the maternally derived chromosome 16, resulting in two maternal (and one paternal) copies of that region of chromosome 16.
Journal ArticleDOI
Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature
S. Brisset,G Joly,Catherine Ozilou,Jean-Michel Lapierre,P. Gosset,M. Lelorc’h,Odile Raoul,Catherine Turleau,Michel Vekemans,S. Romana +9 more
TL;DR: A 3(1/2)-year-old girl with psychomotor and mental retardation and dysmorphic features is described, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital hypoplasia; and anal abnormalities.
Journal ArticleDOI
Rieger's Anomaly and Glaucoma Associated With Partial Trisomy 16q
TL;DR: A patient with partial trisomy 16q, as identified through chromosome analysis on lymphocyte culture technique, who also had Rieger's anomaly and congenital glaucoma is presented.
Journal ArticleDOI
Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
TL;DR: A female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia is reported, resulting in partial trisomy for 16q and partial monosomy for 15q.
References
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Book ChapterDOI
Chromosome Abnormalities and Abortion
André Boué,Joëlle Boué +1 more
TL;DR: Although spontaneous abortions represent one of the most frequent pathological entities, their causes have remained relatively obscure until the last decade.
Journal ArticleDOI
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16))q21).
TL;DR: A polymalformed newborn with partial monosomy for the long arm of chromosome 16 is presented and karyotype 46,XX,del(16)(q21).
Journal ArticleDOI
Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.
L M Stern,A R Mureh +1 more
TL;DR: An infant who was diagnosed clinically as trisomy 18 with pseudohermaphroditism was found to have an extra chromosome which represented a translocation chromosome derived from a balanced, reciprocal translocation between chromosomes 16 and 18.
Journal ArticleDOI
Partial trisomy 16q
TL;DR: A 5-month-old female was found with a 16q-trisomy; her mother was the carrier of a balanced translocation 46,XX,t(15p+;16q-)(15p12; 16q11) - the first report in the literature of a liveborn with this chromosome abnormality.