Familial inverted duplication 7p

G. B. Schaefer, K. Novak, D. Steele, B. Buehler, Shelley D Smith, D. Zaleski, D. Pickering, M. Nelson, W. Sanger

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2→p13 portion of chromosome 7[(46, XX, dup(7)(p13p12.2)]. The proposita's older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication.

Original languageEnglish (US)
Pages (from-to)184-187
Number of pages4
JournalAmerican journal of medical genetics
Volume56
Issue number2
DOIs
StatePublished - Apr 19 1995

Fingerprint

Chromosomes, Human, Pair 7
Chromosome Duplication
Failure to Thrive
Nose
Siblings
Chromosomes
Mothers
Trisomy 7p Chromosome 7
Grandparents

Keywords

  • chromosome 7
  • inverted duplication
  • partial trisomy 7

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Schaefer, G. B., Novak, K., Steele, D., Buehler, B., Smith, S. D., Zaleski, D., ... Sanger, W. (1995). Familial inverted duplication 7p. American journal of medical genetics, 56(2), 184-187. https://doi.org/10.1002/ajmg.1320560214

Familial inverted duplication 7p. / Schaefer, G. B.; Novak, K.; Steele, D.; Buehler, B.; Smith, Shelley D; Zaleski, D.; Pickering, D.; Nelson, M.; Sanger, W.

In: American journal of medical genetics, Vol. 56, No. 2, 19.04.1995, p. 184-187.

Research output: Contribution to journalArticle

Schaefer, GB, Novak, K, Steele, D, Buehler, B, Smith, SD, Zaleski, D, Pickering, D, Nelson, M & Sanger, W 1995, 'Familial inverted duplication 7p', American journal of medical genetics, vol. 56, no. 2, pp. 184-187. https://doi.org/10.1002/ajmg.1320560214
Schaefer GB, Novak K, Steele D, Buehler B, Smith SD, Zaleski D et al. Familial inverted duplication 7p. American journal of medical genetics. 1995 Apr 19;56(2):184-187. https://doi.org/10.1002/ajmg.1320560214
Schaefer, G. B. ; Novak, K. ; Steele, D. ; Buehler, B. ; Smith, Shelley D ; Zaleski, D. ; Pickering, D. ; Nelson, M. ; Sanger, W. / Familial inverted duplication 7p. In: American journal of medical genetics. 1995 ; Vol. 56, No. 2. pp. 184-187.
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