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Cytogenetic investigation of patients with primary amenorrhea

Year: 2012

Type: article

Abstract: Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short stature, poorly developed secondary sexual characteristics, and growth retardation were studied. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed female karyotype with a 15(ps+) and an isochromosome of X, i(Xq), in one patient and 46,X, i(Xq), in another patient. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype-genotype correlation to understand clinical heterogeneity in genetic counseling.

Source: Indian journal of human genetics

DOI: 10.4103/0971-6866.96676

Authors: KalalI Goud, KVijaya Laxmi, S Dayakar, SJ Babu, RN Mehrothra

Institutions: Apollo Hospitals, Apollo Hospitals, Apollo Hospitals, Apollo Hospitals

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2016263388

FWCI: 0.147

Cites: 4

Cited by: 4

Related to: 10