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 Citations (Scopus)

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
StatePublished - 1996
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 17
Fluorescence In Situ Hybridization
Micrognathism
Chromosomes
Septum Pellucidum
Coloboma
Paint
Palate
Penis
Iris
Karyotype
Nose
Tongue
Hypoglycemia
Cytogenetics
Brain
Therapeutics
Cerebellar Vermis

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.

Characterization of a derivative chromosome 17 by FISH-technique. / Ramesh, K.h.; Shah, H. O.; Sherman, J.; Lin, J. H.; Verma, R. S.

In: Annales de Genetique, Vol. 39, No. 3, 1996, p. 177-180.

Research output: Contribution to journalArticle

Ramesh, KH, Shah, HO, Sherman, J, Lin, JH & Verma, RS 1996, 'Characterization of a derivative chromosome 17 by FISH-technique', Annales de Genetique, vol. 39, no. 3, pp. 177-180.
Ramesh KH, Shah HO, Sherman J, Lin JH, Verma RS. Characterization of a derivative chromosome 17 by FISH-technique. Annales de Genetique. 1996;39(3):177-180.
Ramesh, K.h. ; Shah, H. O. ; Sherman, J. ; Lin, J. H. ; Verma, R. S. / Characterization of a derivative chromosome 17 by FISH-technique. In: Annales de Genetique. 1996 ; Vol. 39, No. 3. pp. 177-180.
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