Literature DB >> 568665

Chromosome banding studies in two patients with XXXXY syndrome.

C L Levy, R S Sparkes, H E Carlson.   

Abstract

In 2 adult male patients with 49 chromosomes, an XXXXY sex chromosome constitution was confirmed by trypsin-Giemsa banding sites. Clinical findings as well as fingerprint ridge counts were typical of the syndrome. Primary hypogonadism was documented by finding low serum testosterone and raised serum LH and FSH levels. Several radiological abnormalities, not previously described in this syndrome, were seen in 1 patient.

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Year:  1978        PMID: 568665      PMCID: PMC1013704          DOI: 10.1136/jmg.15.4.301

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


  13 in total

1.  A SENSITIVE DOUBLE ANTIBODY IMMUNOASSAY FOR HUMAN GROWTH HORMONE IN PLASMA.

Authors:  D S SCHALCH; M L PARKER
Journal:  Nature       Date:  1964-09-12       Impact factor: 49.962

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

4.  A radioimmunoassay for measurement of thyroxine in unextracted serum.

Authors:  I J Chopra
Journal:  J Clin Endocrinol Metab       Date:  1972-06       Impact factor: 5.958

5.  XXXXY syndrome with mosaicism: case report.

Authors:  R J Gardner; V E Sands; A M Veale; D A Howarth; M I Parslow
Journal:  N Z Med J       Date:  1972-07

6.  A homologous radioimmunoassay for human prolactin.

Authors:  Y N Sinha; F W Selby; U J Lewis; W P VanderLaan
Journal:  J Clin Endocrinol Metab       Date:  1973-03       Impact factor: 5.958

7.  Autoradiographically identified karyotype 49,XXXXY, t(4; 11) (q35; q23) confirmed by banding.

Authors:  A De La Chapelle; J Schröder
Journal:  Hereditas       Date:  1973       Impact factor: 3.271

8.  An improved radioimmunoassay of triiodothyronine in serum: its application to clinical and physiological studies.

Authors:  I J Chopra; R S Ho; R Lam
Journal:  J Lab Clin Med       Date:  1972-11

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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  1 in total

1.  Brain magnetic resonance imaging findings in 49,XXXXY syndrome.

Authors:  Trevor L Hoffman; Arastoo Vossough; Can Ficicioglu; Jeannie Visootsak
Journal:  Pediatr Neurol       Date:  2008-06       Impact factor: 3.372

  1 in total

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