Monosomy for 21pter-q21: Case report and assignment of a DNA clone (Fr8-77) to the deleted segment

Kyohko Abe*, Han Xiang Deng, Naoki Harada, Koh ichiro Yoshiura, Takahiko Oh-hira, Norio Nikawa

*Corresponding author for this work

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

A 4-month-old Japanese girl with partial monosomy 21 was described. The patient has craniofacial anomalies, a short neck, wide-set nipples, anal atresia, deformed feet, hypertonia, intrauterine growth retardation, and mental deficiency. RFA- and high-resolution GTG-banding chromosome analyses, and Southern- and slot-blot analyses interpreted her karyotype as 45,XX, -2, -21, +der(2)t(2;21)(q37.3;q22.1). The origin of this de novo translocation ascertained by analyses with both QFQ-heteromorphisms and a Fr8-77/BamHI RFLP was paternal. Comparison of the patient with previously reported patients confirmed that her manifestations are consistent with those of monosomy for 21pter-q21. Based on the results of molecular analyses on the present patient, a DNA clone, Fr8-77 (D21S82), was assigned to pter-q21.

Original languageEnglish (US)
Pages (from-to)303-310
Number of pages8
JournalThe Japanese Journal of Human Genetics
Volume35
Issue number4
DOIs
StatePublished - Dec 1 1990

Keywords

  • locus D21S82
  • monosomy 21
  • parental origin
  • regional mapping

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Medicine(all)

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