A 6 year old girl with mental retardation, congenital malformations, deficiency of Ig A and the chromosomal aberration 46,XX,18r is described. The clinical findings of patients with structural aberrations of chromosome 18 described in the literature are reported. Zusammenfassung Es wird ein 6jähr...
Frequently, XX males have agenetictranslocation involving the testis-determining gene, SRY. SRY, which encodes a DNA-binding protein, is normally located near the pseudo-autosomal region of the short arm of theY chromosome. In most XX males, SRY has been incorporated into theX chromosomeor anoth...
Boys are hemizygous (i.e., they have only one of any of the genes found in the X chromosome). Thus, a mutant X chromosomal gene that codes for a structural protein (hence a dominant gene) would be the equivalent of a homozygous autosomal-dominant mutation that is usually lethal or suble...
This hypothesis makes testable predictions of the phenotypes of XX and XY individuals with deficiencies or overproduction of any of the three genes, and is... Jennifer,A.,Marshall,... - 《Bioessays》 被引量: 212发表: 1998年 X-chromosome inactivation and human genetic disease The inactivation ...
A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation鈥 45,XX,t(14;15)(p11;q11). This type of Roberts... A Smith,M Noel - 《Human Genetics》 被引量: 100发表: 1980年 A boy with ring chromosome 15 derived from a t(15q;15q...
This syndrome is a group of chromosomal disorders in which there is at least one extra X chromosome added to the normal 46XY male karyotype [1]. It is characterized by hypogonadism, gynaecomastia, azoospermia or oligospermia, and increased levels of gonadotropins [2]. Variants of Klinefelter...
32, 257-262, 1987 DUCHENNE MUSCULAR DYSTROPHY IN A FEMALE WITH 45,X/46,XX CHROMOSOME CONSTITUTION Motoki SANO,t Fumiko SAITO,~ Kohtaro YAMAMOTO,~ Akira TONOMURA,2 and Hiroshi TSUKAGOSHI~ 1Department of Neurology, Faculty of Medicine, and ~Department of Cytogenetics, Medical Research Institute...
Phenotypes associated with female X chromosome aneuploidy in UK Biobank: an unselected, adult, population-based cohort Women with X chromosome aneuploidy such as 45,X (Turner syndrome) or 47,XXX (Triple X syndrome) present with a range of characteristics including differences in stature, an increas...
A girl is described for whom an unusual chromosome constitution was found and who had a peculiar congenital heart defect. The girl showed the main clinical features of the trisomy 9p syndrome, such as psychomotor retardation, microcephal... EV Orye,H Verhaaren,HV Egmond,... - 《Clinical Ge...
10 Years ofGenomics,Chromosome 21, and Down Syndrome During the first 10 years of Genomics (1987-1997), the molecular structure of human chromosome 21 (HC21) has been intensively investigated. Due to its smal... SE Antonarakis - 《Genomics》 被引量: 292发表: 1998年 Isochromosome 18p Resu...