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 journalArticle

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Abstract

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
Volume87
Issue number3
DOIs
StatePublished - Jul 1991
Externally publishedYes

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Genetic Markers
Restriction Fragment Length Polymorphisms
Chromosomes
Monosomy
Karyotyping
Densitometry
Hybrid Cells
Cytogenetics
DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Franco, B., Lai, L-W., Patterson, D., Ledbetter, D. H., Trask, B. J., van den Engh, G., ... Lupski, J. R. (1991). Molecular characterization of a patient with del(1)(q23-q25). Human Genetics, 87(3), 269-277. https://doi.org/10.1007/BF00200903

Molecular characterization of a patient with del(1)(q23-q25). / Franco, Brunella; Lai, Li-Wen; Patterson, David; Ledbetter, David H.; Trask, Barbara J.; van den Engh, Ger; Iannaccone, Susan; Frances, Shannon; Patel, Pragna I.; Lupski, James R.

In: Human Genetics, Vol. 87, No. 3, 07.1991, p. 269-277.

Research output: Contribution to journalArticle

Franco, B, Lai, L-W, Patterson, D, Ledbetter, DH, Trask, BJ, van den Engh, G, Iannaccone, S, Frances, S, Patel, PI & Lupski, JR 1991, 'Molecular characterization of a patient with del(1)(q23-q25)', Human Genetics, vol. 87, no. 3, pp. 269-277. https://doi.org/10.1007/BF00200903
Franco B, Lai L-W, Patterson D, Ledbetter DH, Trask BJ, van den Engh G et al. Molecular characterization of a patient with del(1)(q23-q25). Human Genetics. 1991 Jul;87(3):269-277. https://doi.org/10.1007/BF00200903
Franco, Brunella ; Lai, Li-Wen ; Patterson, David ; Ledbetter, David H. ; Trask, Barbara J. ; van den Engh, Ger ; Iannaccone, Susan ; Frances, Shannon ; Patel, Pragna I. ; Lupski, James R. / Molecular characterization of a patient with del(1)(q23-q25). In: Human Genetics. 1991 ; Vol. 87, No. 3. pp. 269-277.
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