Molecular characterization of a patient with del(1)(q23-q25)

Brunella Franco, Li Wen Lai, David Patterson, David H. Ledbetter, Barbara J. Trask, Ger van den Engh, Susan Iannaccone, Shannon Frances, Pragna I. Patel, James R. Lupski

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23-1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23-q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000-16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21-1q25.

Original languageEnglish (US)
Pages (from-to)269-277
Number of pages9
JournalHuman genetics
Issue number3
StatePublished - Jul 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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