A child with 45,X/46,X,del(Y)(q12) identified with a Y-specific probe

M. G. Butler, V. G. Dev, J. A. Phillips, S. P. Tho, J. J. Trill, J. A. Tischfield, P. G. McDonough

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


We report a 4-month-old girl with normal length and weight, cleft lip and palate, congenital heart disease, and normal female genitalia. Chromosome studies indicated a mosaic 45,X/46,X, +frag pattern. Parental chromosomes were normal. Several chromosome banding procedures and, ultimately, deoxyribonucleic acid (DNA) studies were performed to identify the centric chromosome fragment.

Original languageEnglish (US)
Pages (from-to)718-720
Number of pages3
JournalFertility and sterility
Issue number4
StatePublished - 1986
Externally publishedYes

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology


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