Ring chromosome Y syndrome

Ring chromosome Y syndrome is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(5.0%)		 7252090
 [45X/46XY/46XrY mosaic with banding and the Turner phenotype (author's transl)].
Aubert L, Verdet C, Giraud F, Mattei JF.
J Gynecol Obstet Biol Reprod (Paris). 1981;10(1):57-60.
Gonadal dysgenesis
Child Females Homo sapiens Mosaicism Phenotype Sex Chromosomes Turner Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000026 Male hypogonadism Very frequent (99-80%)
HP:0000027 Azoospermia Very frequent (99-80%)
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0003251 Male infertility Very frequent (99-80%)
HP:0008222 Female infertility Very frequent (99-80%)
HP:0008669 Abnormal spermatogenesis Very frequent (99-80%)
HP:0000033 Ambiguous genitalia, male Frequent (79-30%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000061 Ambiguous genitalia, female Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000133 Gonadal dysgenesis Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0010460 Abnormality of the female genitalia Frequent (79-30%)
HP:0010461 Abnormality of the male genitalia Frequent (79-30%)
HP:0012741 Unilateral cryptorchidism Frequent (79-30%)
HP:0100779 Urogenital sinus anomaly Frequent (79-30%)
HP:0000048 Bifid scrotum Occasional (29-5%)
HP:0000051 Perineal hypospadias Occasional (29-5%)
HP:0000150 Gonadoblastoma Occasional (29-5%)
HP:0000771 Gynecomastia Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0010464 Streak ovary Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID