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Association With Hypogonadotrophic Hypogonadism and Sex-Chromosome Aneuploidy

PETER BOWEN, MD; MALCOLM A. FERGUSON-SMITH, MB, ChB; DAVID MOSIER, MD; CATHERINE S. N. LEE, MB; HARRY G. BUTLER, MD

Arch Intern Med. 1965;116(4):598-604.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Introduction

CLASSICAL features of the Laurence-Moon syndrome are mental retardation, retinitis pigmentosa, obesity, hypogenitalism, and polydactyly.^1-3 The limits of the syndrome are poorly defined and are frequently extended to include individuals lacking one or more of the components listed. Complete and incomplete forms have been observed in different members of the same family.^4-6 The disorder usually follows the pattern of an autosomal recessive, and evidence derived from sibship analyses and consanguinity is consistent with this mode of inheritance.^4,7,8

The present report describes the results of clinical, endocrinologic, and cytogenetic studies on five affected sibs, one of whom was found to have a sex-chromosome anomaly.

Materials and Methods

All of the affected members of the family have been inmates of the Rosewood State Training School for at least 15 years. The nature of the disorder was recognized during an earlier study conducted by Smith et al.⁹ Subsequently, the family was ascertained . . . [Full Text PDF of this Article]

Author Affiliations
BALTIMORE

From the Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine and the Rosewood State Training School, Owings Mills, Md. Present addresses: Department of Pediatrics, University of Alberta Hospital, Edmonton, Alberta, Canada (Drs. Bowen and Lee); Department of Genetics, The University, Glasgow, Scotland (Dr. Ferguson-Smith); and Illinois State Pediatric Institute, 1640 W Roosevelt Rd, Chicago (Dr. Mosier).

Footnotes
Received for publication March 19, 1965; accepted May 21.

Read before the Annual Meeting of the American Society for Human Genetics, Boulder, Colo, 1964.

Reprint requests to Department of Pediatrics, University of Alberta Hospital, Edmonton, Alberta, Canada (Dr. Bowen).

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