Alstrom's syndrome with Kleinfelter's karyotype

Down's syndrome with an unusual karyotype.

Effects of Karyotype Variations on Phenotype of Patients with Turner Syndrome

Background: Turner syndrome (TS) is a sporadic disorder caused by the absence of all or some parts one X-chromosome with major developmental consequences such as short stature and ovarian failure etc. The minor manifestations of TS are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. Different karyotype abnormalities may lead to different clinical...

Turner syndrome isochromosome karyotype correlates with decreased dental crown width.

The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other...

45, XO karyotype in women with atypical Turner’s syndrome presentation

Turner’s syndrome (TS) is one of the important chromosomal disorders with loss of one sex chromosome in females. The characteristic features include short stature, webbed neck and poorly developed secondary sexual characters. Here we report four cases of TS (one asymptomatic and three symptomatic) who were admitted at Coimbatore Medical College Hospital with general health complaints. Further d...

Down syndrome child with 48,XXY,+21 karyotype

Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa–trypsin-banding technique. Fifty-five individuals (91%) exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an ...