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Updated: Aug 14, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Translocation (3;12) (p21-pter; q24.1-qter) and phenylketonuria
B B Ganguly1, R Dalvi, A V Mehta
1Centre for Research in Mental Retardation, Malad, Mumbai, India.
Abstract:
Cytogenetic karyotyping in mental retardation associated with physical dysmorphism has been regarded as the primary key for the classification of syndromes and other genetic disorders for the predisposition of neoplasia and other fatal diseases. Giemsa-banding of metaphase chromosomes in lymphocytes is a traditional and routine process for the identification of the chromosomal counterpart which can provide a clue for molecular investigation in the subject. An 8-year-old girl showed a diploid karyotype 46, XX, t(3;12) (p21-pter, q24.1-qter) in peripheral blood lymphocyte culture. Biochemical examination of urine labelled her as a case of phenylketonuria. The maternal karyotyping was similar and confirmed the maternal transmission of the translocation.
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