β Scribed by Fan, Yao-Shan; Jung, Jack; Hamilton, Brenda
No coin nor oath required. For personal study only.
A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G-banding and fluorescence in situ hybridization using multiple DNA probes. The karyotype is now described as 46,XY, der(1)(qterβp36.13::q42.3βqter), representing a small deletion of 1p36.13-pter and a small duplication of 1q42.3-qter. Reexamination of this patient at age 16 years showed marked psychomotor delay, severely accentuated dorsal kyphosis and scoliosis, pectus excavatum, and other anomalies but no clinical signs of neuroblastoma. Comparison of the clinical findings in this case with those described in the patients having either a deletion of 1p36-pter or a duplication of 1q42-qter further illustrated the complexity of the genotype-phenotype relationship.
π SIMILAR VOLUMES
A 9-month-old boy with pre-and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies had the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearran
An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short upslanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronc
Of Beginnings and Endings throws Bass Foster and his fellow castaways back through the ages to war-torn Britain and America, where they control kings and countries by wielding weapons from a highly advanced future civilization. From the author of the spellbinding Horseclans series. Library : Fan
We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques
In this Journal, Stratton and Payne [1997] described a child with frontonasal abnormality who was found to have a 22q11 deletion. Because this was the first time that the association of nasal bifidity and this deletion was recognized, causality could not be distinguished from coincidence, although t