โ Scribed by Henegariu, Octavian ;Pescovitz, Ora Hirsch ;Vance, Gail H. ;Verbrugge, Jennifer ;Heerema, Nyla A.
No coin nor oath required. For personal study only.
A newborn female infant presented with abnormalities of the external genitalia including a 3 ร 1 cm phallic structure, a perineal urethral opening, bifid scrotum, and a single urogenital opening. Peripheral blood karyotype was 45,X[81]/46,X,+r(Y)[19], however, there were no signs of Ullrich-Turner syndrome. High resolution G-banding as well as C-and Q-banding did not demonstrate any specific banding pattern or presence of heterochromatin on the ring. However, it was noticed that some of the rings were larger than others. FISH with a probe for Yq12 was negative in all metaphases studied. A Y-specific paint probe hybridized to the entire ring chromosome, confirming its origin. PCR analysis showed the presence of the SRY locus and of proximal Yq locus DYS271. Triple color FISH with probes for the Y centromere, DYZ5 (Yp), and all human telomeres showed the existence of different types of rings, some dicentric, some tetracentric, and some probably octacentric. Owing to the increased risk for gonadoblastoma, a surgical removal of the gonads was performed.
๐ SIMILAR VOLUMES
By Leo Bruce. A Sgt. Beef Mystery--cover. Reprint. Originally Published: Essex, Eng. : Ian Henry Publications, 1975.
We present a patient with features suggestive of Seckel syndrome who was found to be mosaic for ring 4 chromosome. Seckel syndrome is a rare entity characterized by marked growth retardation, microcephaly, facies characterized by receding forehead and chin, large beaked nose, and severe retardation,
Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these
Ring chromosome 22 has been described in over 50 cases. A characteristic phenotype has not been fully delineated; however, long face, thick eyebrows, 2-3 toe syndactyly, mental retardation, adequate somatic growth and the absence of major malformations are noted in many cases. An 11-yearold boy with
Determined to uphold her father's legacy, newly graduated Nora Shipley joins an entomology research expedition to India to prove herself in the field. In this spellbinding new land, Nora is faced with impossible choices?between saving a young Indian girl and saving her career, and between what she's
Determined to uphold her father's legacy, newly graduated Nora Shipley joins an entomology research expedition to India to prove herself in the field. In this spellbinding new land, Nora is faced with impossible choices?between saving a young Indian girl and saving her career, and between what she's