Characterization of a derivative chromosome 17 by FISH-technique

K. H. Ramesh, H. O. Shah, J. Sherman, J. H. Lin, R. S. Verma

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We report a case with derivative chromosome 17 which could not be characterized by routine G-banding, since the additional material on 17q overlapped with chromosome bands 2q35 → qter, 3p25 → pter, 4p15 → pter, 5q33 → qter, 7p15 → pter, 12p11.2 → pter, 14q24 → qter and 16q22 → qter. Therefore, whole chromosome paint and region specific probes were used to identify the abnormality by FISH-technique which revealed a 46,XY, der (17) t (4;17) (p15.2;q25) karyotype. The proband was partially trisomic for 4p15.2 → pter and monosomic for the distal 17q25 → qter regions. The major clinical features included: anti-mongoloid slanted palpebrae, coloboma of right iris, depressed nasal bridge, high arched palate, protruding tongue, micrognathia and small penis. The MRI of the brain revealed midly hypoplastic cerebellar vermis, and a normal septum pellucidum. The infant responded to therapy for hypoglycemia and was discharged under stable condition. Prior to cytogenetic evaluation the infant was not recognized as either << trisomy 4p syndrome >> or << monosomy 17q syndrome >>.

Original languageEnglish (US)
Pages (from-to)177-180
Number of pages4
JournalAnnales de Genetique
Volume39
Issue number3
Publication statusPublished - Oct 2 1996
Externally publishedYes

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Keywords

  • FISH-technique
  • Monosomy 17q
  • Trisomy 4p

ASJC Scopus subject areas

  • Genetics

Cite this

Ramesh, K. H., Shah, H. O., Sherman, J., Lin, J. H., & Verma, R. S. (1996). Characterization of a derivative chromosome 17 by FISH-technique. Annales de Genetique, 39(3), 177-180.