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48,XXYY syndrome

MONDO:0015028

The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.

Also known as: 48, XXYY Syndrome, 48, XXYY syndrome, 48,XXYY Klinefelter syndrome, 48,XXYY variant of Klinefelter's syndrome, XXYY syndrome

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Endocrine system disorder (72) Syndromic disease (25) Reproductive system disorder (15) Human disease (14) Developmental defect during embryogenesis (8) Disorder of sexual differentiation (8) Gonadal disorder (3) Sex chromosome disorder of sex development (1) Disease by body system or component (0)
Trials to join now! 3 Not yet finished but already full! 1
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  • Reading the genetic code to understand differences in sex development

    Knowledge-focused ENROLLING_BY_INVITATION

    This study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how r…

    Phase: NA • Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

    Last updated Jul 24, 2026 00:00 UTC

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