Male patient with non‐mosaic deleted Y‐chromosome and clinical features of Turner syndrome

Graham, Brett H.; Bacino, Carlos A.

doi:10.1002/ajmg.a.10147

Cited by 11 publications

(14 citation statements)

References 10 publications

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“…It is inappropriate to call these patients "male TS," but the literature has several such references. [22][23][24][25] Many of these patients are diagnosed with Noonan syndrome, 25 and most bear nonmosaic Y-chromosome deletions. Patients with Y-chromosome mosaicism and TS stigmata that are born males or true hermaphrodites are also known to exist.…”

Section: An Update On the Incidence Etiology And Chromosomal Constitmentioning

confidence: 99%

Turner Syndrome

Stratakis¹,

Rennert²

2005

The Endocrinologist

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It has been 10 years since our last review on Turner syndrome for The Endocrinologist. At the time, we focused on the recognition of this condition and the understanding, in the last 50 years, of its many clinical sequelae, starting from what Dr Turner had described; we also noted the first steps that the Genome Project had undertaken towards the molecular elucidation of the condition. As it befits any genetic condition in the early 21st century, the issues of the current review are quite different: the then-experimental treatment with recombinant growth hormone (rGH) is now approved and considered standard of practice (albeit not without significant controversy); patients with Turner syndrome, treated and untreated with rGH, are getting older, have entered the workforce, and have families of their own, and, thus, a previously unstudied phenotype emerges, that of the older adult with complete or partial chromosome X monosomy; and, finally, significant advances have been made in the molecular understanding of the condition that go well beyond chromosomal studies. The molecular biology of the X chromosome holds promise for the elucidation of such important and complex questions as what determines gender (and to some extent, perhaps, sexual identity), ovarian function (and, consequently, reproduction); processes such as skeletal maturation, proportions, and final height; and many other biologic parameters that are known to demonstrate X-linked differences.

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Section: An Update On the Incidence Etiology And Chromosomal Constitmentioning

confidence: 99%

Turner Syndrome

Stratakis¹,

Rennert²

2005

The Endocrinologist

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“…This gene, Transducin beta-like 1Y, has a X chromosome homologue related to a X-linked late-onset sensorineural deafness (Yan et al, 2005). Interestingly, two recent reports pointed out the occurrence of deletions or Yp translocation associated to deafness (Graham and Bacino, 2003; Klein et al, 2005). …”

Section: Y-chromosome Genes and Male Dysfunctionmentioning

confidence: 99%

Human Y-chromosome variation and male dysfunction

Márcia

Carvalho²,

Santos

2005

J Mol Genet Med

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The Y-chromosome is responsible for sex determination in mammals, which is triggered by the expression of the SRY gene, a testis-determining factor. This particular gene, as well as other genes related to male fertility, are located in the non-recombining portion of the Y (NRY), a specific region that encompasses 95% of the human Y-chromosome. The other 5% is composed of the pseudo-autosomal regions (PARs) at the tips of Yp and Yq, a X-chromosome homologous region used during male meiosis for the correct pairing of sexual chromosomes. Despite of the large size of the human NRY (about 60 Mb), only a few active genes are found in this region, most of which are related to fertility. Recently, several male fertility dysfunctions were associated to microdeletions by STS mapping. Now that the complete genetic map of the human Y-chromosome is available, the role of particular NRY genes in fertility dysfunctions is being investigated. Besides, along with the description of several nucleotide and structural variations in the Y-chromosome, the association between phenotype and genotype is being addressed more precisely. Particularly, several research groups are investigating the association between Y-chromosome types and susceptibility to certain male dysfunctions in different population backgrounds. New insights on the role of the Y-chromosome and maleness are being envisaged by this approach.

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“…They appear at a breakage point and include various types of abnormalities, such as deletion, duplication, translocation, ring chromosomes, and isodicentricchromosomes [ 3 ]. The karyotype of the 46,X,+mar is one example of males having testicles without the normal structural Y chromosome in their non-mosaic karyotypes, which is rarely reported ( Table 1 ) [ 2 , 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

A boy with 46,X,+mar presenting gynecomastia and short stature

Kim

Jung

et al. 2017

Ann Pediatr Endocrinol Metab

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A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.

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Male patient with non‐mosaic deleted Y‐chromosome and clinical features of Turner syndrome

Cited by 11 publications

References 10 publications

Turner Syndrome

Turner Syndrome

Human Y-chromosome variation and male dysfunction

A boy with 46,X,+mar presenting gynecomastia and short stature

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