Literature DB >> 568664

Epiphysial dysplasia: a constant finding in the XXXXY syndrome.

R Schmidt, M Pajewski, M Rosenblatt.   

Abstract

Two patients with the XXXXY syndrome are presented. Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism. A constant feature of this syndrome is a varying degree of epiphysial dysplasia probably secondary to hypotonia and growth deceleration.

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Year:  1978        PMID： 568664      PMCID： PMC1013698          DOI： 10.1136/jmg.15.4.282

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


  13 in total

1.  Congenital heart disease in 49, XXXXY syndrome.

Authors:  R B Karsh
Journal:  Pediatrics       Date:  1975-09       Impact factor: 7.124

2.  A child with 49 chromosomes.

Authors:  M FRACCARO; K KAIJSER; J LINDSTEN
Journal:  Lancet       Date:  1960-10-22       Impact factor: 79.321

3.  Finger-print pattern and the sex chromosomes.

Authors:  L S Penrose
Journal:  Lancet       Date:  1967-02-11       Impact factor: 79.321

Review 4.  Mongolism and sex: a common problem of cell proliferation?

Authors:  U Mittwoch
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318

5.  49,XXXXY chromossomal anomaly in a neonate.

Authors:  A Hayek; V Riccardi; L Atkins; H Hendren
Journal:  J Med Genet       Date:  1971-06       Impact factor: 6.318

6.  The 49,XXXXX chromosome constitution: similarities to the 49,XXXXY condition.

Authors:  F Sergovich; C Uilenberg; J Pozsonyi
Journal:  J Pediatr       Date:  1971-02       Impact factor: 4.406

7.  The 48, XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy.

Authors:  B Kaluzewski; D Podkul; I Zaborowska; T Moruzgala; L Jakubowski
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

Review 8.  [The XXXXY syndrome. Report of 7 new cases and review of the literature (author's transl)].

Authors:  H G Terheggen; R A Pfeiffer; H Haug; W Schünke
Journal:  Z Kinderheilkd       Date:  1973-10-01

9.  Roentgen findings in the XXXXY chromosome anomaly.

Authors:  C S Houston
Journal:  J Can Assoc Radiol       Date:  1967-03

10.  The XXXXY chromosome anomaly: report of three new cases and review of 30 cases from the literature.

Authors:  W A Zaleski; C S Houston; J Pozsonyi; K L Ying
Journal:  Can Med Assoc J       Date:  1966-05-28       Impact factor: 8.262
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  3 in total

1.  49,XXXXY syndrome: behavioural and developmental profiles.

Authors:  C A Lomelino; A L Reiss
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

2.  49,XXXXY: a distinct phenotype. Three new cases and review.

Authors:  J Peet; D D Weaver; G H Vance
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

3.  X pentasomy: a case and review.

Authors:  N Archidiacono; M Rocchi; M Valente; G Filippi
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132
  3 in total

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