Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band- specific painting probes generated by chromosome microdissection

Z. Chen, T. A. Grebe, X. Y. Guan, M. Notohamiprodjo, P. J. Nutting, J. F. Stone, J. M. Trent, A. A. Sandberg

Research output: Contribution to journalArticle

Abstract

A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies bad the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der (1) t (1;4) (4qter → 4q33:: 1p36.13 → 1qter),der(4)t(1;4)inv(4) (4pter → 4q31.3::1p36.33 → 1p36.13::4q33 → 4q31.3:: 1p36.33 → 1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.

Original languageEnglish (US)
Pages (from-to)160-166
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume71
Issue number2
DOIs
StatePublished - 1997
Externally publishedYes

Fingerprint

Microdissection
Paintings
Fluorescence In Situ Hybridization
Nuclear Family
Cytogenetics
Chromosomes
Karyotype
Mothers
Plagiocephaly
Chromosome Breakpoints
Microcephaly
Chromosome Aberrations
Monosomy 1p Chromosome 1
Trisomy 4q Chromosome 4
Growth

Keywords

  • Chromosome microdissection
  • Chromosome translocation
  • Del(lp)
  • Dup(4q)
  • FISH

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son : Cytogenetic and FISH studies using band- specific painting probes generated by chromosome microdissection. / Chen, Z.; Grebe, T. A.; Guan, X. Y.; Notohamiprodjo, M.; Nutting, P. J.; Stone, J. F.; Trent, J. M.; Sandberg, A. A.

In: American Journal of Medical Genetics, Vol. 71, No. 2, 1997, p. 160-166.

Research output: Contribution to journalArticle

Chen, Z. ; Grebe, T. A. ; Guan, X. Y. ; Notohamiprodjo, M. ; Nutting, P. J. ; Stone, J. F. ; Trent, J. M. ; Sandberg, A. A. / Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son : Cytogenetic and FISH studies using band- specific painting probes generated by chromosome microdissection. In: American Journal of Medical Genetics. 1997 ; Vol. 71, No. 2. pp. 160-166.
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abstract = "A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies bad the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der (1) t (1;4) (4qter → 4q33:: 1p36.13 → 1qter),der(4)t(1;4)inv(4) (4pter → 4q31.3::1p36.33 → 1p36.13::4q33 → 4q31.3:: 1p36.33 → 1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.",
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T2 - Cytogenetic and FISH studies using band- specific painting probes generated by chromosome microdissection

AU - Chen, Z.

AU - Grebe, T. A.

AU - Guan, X. Y.

AU - Notohamiprodjo, M.

AU - Nutting, P. J.

AU - Stone, J. F.

AU - Trent, J. M.

AU - Sandberg, A. A.

PY - 1997

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N2 - A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies bad the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der (1) t (1;4) (4qter → 4q33:: 1p36.13 → 1qter),der(4)t(1;4)inv(4) (4pter → 4q31.3::1p36.33 → 1p36.13::4q33 → 4q31.3:: 1p36.33 → 1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.

AB - A 9-month-old boy with pre- and post-natal growth retardation, microcephaly, plagiocephaly, and several minor anomalies bad the initial karyotype: 46,XY,der(1)t(1;?) (p36.1;?). Further analysis showed that the der(1) was derived from an unfavorable segregation of a maternal complex chromosome rearrangement, i.e., 46,XX,der(1)t(1;?) (p36.1;?), der(4)t(4;?)(q?;?). Whole chromosome fluorescence in situ hybridization (FISH) and chromosome microdissection were used to clarify the maternal karyotype as: 46,XX,der (1) t (1;4) (4qter → 4q33:: 1p36.13 → 1qter),der(4)t(1;4)inv(4) (4pter → 4q31.3::1p36.33 → 1p36.13::4q33 → 4q31.3:: 1p36.33 → 1pter). Therefore, the karyotype of the boy actually was 46,XY,der(1)t(1;4) (p36.13;q33). Clinical comparison of the patient's clinical findings showed similarities to individuals with partial del(1p) and dup(4q). To our knowledge the above cytogenetic abnormalities have not been described previously. This case further demonstrates the advantages of chromosome microdissection and FISH in the identification of anomalous chromosome regions and breakpoints.

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