An adult with 49,XYYYY karyotype: Case report and endocrine studies

Abstract

Sex chromosome abnormalities, such as 47,XXX, 47,XXY, 47,XYY, and 45,X, are relatively common and occur in approximately 1 of 400 births. Sex chromosome tetrasomy and pentasomy are much rarer events. The somatic and developmental consequences of supernumerary sex chromosomes have not been studied adequately. This is especially true of individuals with only supernumerary Y chromosomes. Based on available case reports, the effects of extra Y chromosomes appear not as severe as those of supernumerary X chromosomes. Only two case reports of nonmosaic tetrasomy of the Y chromosome have been published. We evaluated a 30-year-old man with a 49,XYYYY karyotype and assessed his severe physical and mental handicaps (particularly the endocrine abnormalities) and attempted to clarify the effects of extra Y chromosomes on growth, development, and behavior.

Transient hydrops fetalis in a prenatally diagnosed pentasomy X?

“…Congenital heart defects are detected in 56% of pentasomy X patients 4 . The most common cardiac anomaly is a patent ductus arteriosus, and others include a ventral septal defect, coarctation of the aorta, and stenosis of the aorta and pulmonary arteries; 9 however, we did not detect any major cardiac anomaly in our follow up during the 17th and 21st weeks of gestation.…”

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

“…Our observation reports ASD associated with XYYYY pentasomy and highlights two important points: the patient with XYYYY pentasomy met criteria for ASD, and ASD has been found in other studies of males with Y chromosome polysomy, the importance of developing a psychiatric personalized evaluation using standardized assessment ASD measures in order to plan a “bottom up” treatment Y chromosome and ASD (Table 3 ) Table 3 Review of published case reports Age at diagnosis Facial features Skeletal abnomalities Stature Psychomotor developpement Behavioral features Testicular insufficiency Cytogenetic analysis Present case 8 years Macrocephaly, turricephaly and brachycephaly, high forehead, long face, oedematous eyelids, narrow palpebral fissures, bulbous nasal tip, thick lips, thick helix mild clinodactyly of the fifth fingers Tall Mild ID Speech delay ASD Anxiety Sleep Disorders Mosaicism 49, XYYYY (85%), 45,X0 (15%) [ 23 ] 30 years Proeminent forehead and supraorbital ridges Radioulnar synososis clinodactyly of the fifth fingers Normal Range Severe ID Violent behavior Azoospermia 49, XYYYY [ 24 ] 14 months Low set ears Micrognatia Trigonocephaly Epicanthal folds Palate hight arched Radio Ulnar synostosis Scoliosis brachyclinodactyly Normal Range Psychomotor retardation Speech delay Impulsivity Low frustration threshold Increased basal gonadotropins 49, XYYYY [ 33 ] 6 years Low set ears Bilateral « lop ears » Turricephaly Tall Speech delay Low frustration threshold Mild social interaction disorders Attention deficit 49, XYYYY [ 25 ] 15 years Bilateral Cataract Bradycardia Clinodactyly of the fifth fingers Normal Range Psychomotor retardation ...…”

Copy number variation on the human Y chromosome

“…Attention was focused on already known or suspected variants, including the 'ampliconic' regions, the TSPY1 array length variation, a short arm paracentric inversion, and length variation of the distal Yq are not identified (Abramsky and Chapple, 1997), because the extra Y has relatively mild phenotypic effects, and even carrying one or two more is tolerated (Shanske et al, 1998). This suggests that extra doses of individual genes may not have serious consequences, unless the stoichiometry of Y-specific gene doses is crucial.…”