Literature DB >> 7241549

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

N J Carpenter, L G Leichtman, S Stamper, B Say.   

Abstract

A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia, and microcephaly among others. Dermatoglyphic studies showed an increased number of ulnar loops. More interestingly, bilateral transverse hypothenar creases were noted. Two of the reported cases also had unspecified genital abnormalities. The variation in clinical findings among these patients may be explained by a difference in the breakpoints on chromosome 17.

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Year:  1981        PMID: 7241549      PMCID: PMC1048713          DOI: 10.1136/jmg.18.3.234

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

Review 1.  Ring chromosome 17 in a mentally retarded boy.

Authors:  O H Qazi; C Madahar; R Kanchanapoomi; R Giridharan; E Beller
Journal:  Ann Genet       Date:  1979

2.  Ring 17 chromosome detected by amniocentesis.

Authors:  A G Weinberg; J L Bair; M J Harrod
Journal:  Humangenetik       Date:  1975-07-23

3.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

4.  [A case of ring chromosome E 17: 46, XX, r(17) (p13 yields q25) (author's transl)].

Authors:  K Ono; Y Suzuki; I Fujii; K Takeshita; M Arima
Journal:  Jinrui Idengaku Zasshi       Date:  1974-12

5.  [Study of a 46,XX-46,XX,17r mosaicism].

Authors:  P Petit; L Koulischer
Journal:  Ann Genet       Date:  1971-03

6.  [A familial case of 17 r ring-shaped chromosome of group E with transmission from father to son].

Authors:  M Burden; E Lupaşcu; L Mărgineanu
Journal:  Rev Med Chir Soc Med Nat Iasi       Date:  1973 Apr-Jun
  6 in total
  6 in total

1.  Miller-Dieker syndrome with ring chromosome 17.

Authors:  N Sharief; J Craze; D Summers; L Butler; C B Wood
Journal:  Arch Dis Child       Date:  1991-06       Impact factor: 3.791

2.  Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Authors:  H M Kingston; D H Ledbetter; P I Tomlin; K L Gaunt
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

3.  Inverted neurons in agyria. A Golgi study of a case with abnormal chromosome 17.

Authors:  C Bordarier; O Robain; M O Rethoré; O Dulac; C Dhellemes
Journal:  Hum Genet       Date:  1986-08       Impact factor: 4.132

Review 4.  Genetic factors in lissencephaly syndromes: a review.

Authors:  P Miny; W Holzgreve; J Horst
Journal:  Childs Nerv Syst       Date:  1993-11       Impact factor: 1.475

5.  New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

Authors:  R F Stratton; W B Dobyns; S D Airhart; D H Ledbetter
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.

Authors:  C Dhellemmes; S Girard; O Dulac; O Robain; A Choiset; S Tapia
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

  6 in total

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