A case report of hypersomnia in tetrasomy X improved with medical therapy

Jayaraman, Dilip Kumar; Carvalho, Karen S.; Hasbani, Daphne M.

doi:10.1002/ccr3.1440

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…Among all these mosaicisms, only one fetus have 48,XXXX mosaicism karyotype. It was reported that girls with tetrasomy X had dysmorphic facial features, varying degrees of cognitive dysfunction, speech and language disorders and skeletal and connective tissue disorders 17 . There are sex chromosomal or autosomal structure abnormality for 6 cases, including inversion, translocation, isochromosome, dicentric X chromosome.…”

Section: Discussionmentioning

confidence: 99%

The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

Hu¹,

Lü²,

Kong³

2020

Preprint

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Objective To analyze the karyotype of sex chromosome mosaicism in our prenatal diagnosis of 14034 pregnant women in their second trimester, and report the rate of sex chromosome mosaicism and their clinical outcomes.Methods A retrospective analysis of cytogenetic studies of 14043 cases of pregnant women from the Genetic Counseling Clinic from May 2017 to January 2020 by amniocentesis, were performed. Results A total of 46 cases of sex chromosome mosaicism were found, and the sex chromosome mosaicism rate was 0.328%, mainly including four types of mosaicism: mos45,X/46,XX(12); mos45,X/46,XY (11); mos47XXX(or XXY or XYY)/46XX(or XY)(11); and other types of complex abnormal karyotype mosaic(12). Among the 46 fetuses with sex chromosome mosaicism, the indications of prenatal diagnosis includes the numerical abnormality of sex chromosome by NIPT(23/46)，the high risk of trisomy 21 by serum screening(12/46)，abnomal ultrosound(4/46), the advanced maternal age(age ≥35)(4/46), and the histories of abnormal pregnancy(3/46). According to the results of cytogenetic analysis and genetic counseling, the pregnant women would decide to continue or terminate their pregnancy. Conclusion Prenatal cytogenetic diagnosis by amniocentesis is an accurate and convenient method and helps to avoid the delivery of fetuses with chromosomal diseases and reduce the risk of fetal malformation.

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Section: Discussionmentioning

confidence: 99%

The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

Hu¹,

Lü²,

Kong³

2020

Preprint

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What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

Rosenberg

Pater

Pellikaan

et al. 2021

JCM

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Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of adequate MD care for adults. We have launched an MD outpatient clinic providing syndrome-specific care for adults with CRGS, which, to our knowledge, is the first one worldwide in the field of internal medicine. Between 2015 and 2020, we have treated 720 adults with over 60 syndromes. Eighty-nine percent of the syndromes were associated with endocrine problems. We describe case series of missed diagnoses and patients who had undergone extensive diagnostic testing for symptoms that could actually be explained by their syndrome. Based on our experiences and review of the literature, we provide an algorithm for the clinical approach of health problems in CRGS adults. We conclude that missed diagnoses and needless invasive tests seem common in CRGS adults. Due to the increased life expectancy, an increasing number of patients with CRGS will transfer to adult endocrinology. Internist-endocrinologists (in training) should be aware of their special needs and medical pitfalls of CRGS will help prevent the burden of unnecessary diagnostics and under- and overtreatment.

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A case report of hypersomnia in tetrasomy X improved with medical therapy

Cited by 2 publications

References 10 publications

The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

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