| A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. The activated partial thromboplastin time was shortened, and the level of plasma factor viii was high. A chromosomal analysis revealed a 49, XXXXY karyotype. From the 10th hospital day, he suffered from sudden dyspnea following swelling of the left leg. He was diagnosed as having deep vein thrombosis and pulmonary embolism, and was successfully treated with anticoagulant therapy. This is the first case of the 49, XXXXY syndrome complicated with unilateral renal aplasia, proteinuria, and venous thromboembolism. ( info) |
12/22. Case report: Y;6 translocation with deletion of 6p. Translocations between the y chromosome and an autosome are rare. We report a phenotypic male with a translocation between the y chromosome and chromosome 6p, leading to partial 6p monosomy and XX male syndrome. He is the second child to be reported with this karyotype. Phenotypic findings included growth retardation, severe developmental delay, a Dandy-Walker malformation, cardiac and urogenital abnormalities, bilateral hearing loss, cleft palate, severe kyphoscoliosis, minor digital anomalies, and a hypoplastic phallus. Craniofacial dysmorphism consisted of dolichocephaly, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge and a tented upper lip. cytogenetic analysis showed the karyotype 46,XX,der(6)t(Y;6)(p11.2;p23).ish der(6)(SRY ,6pTEL48-). The effects of partial monosomy 6p are discussed and compared to other patients with interstitial and terminal 6p deletions. ( info) |
| We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a xyy karyotype. ( info) |
14/22. A case report of prenatal diagnosis of PentaX syndrome in association with isolated borderline ventriculomegaly. We report of case of pentaX syndrome that was diagnosed prenatally. PentaX aneuploidy is very rare with only 25 cases reported so far. This is the third case of prenatal diagnosis of pentaX syndrome in 2nd trimester. This patients underwent an amniocentesis for ventriculomegaly which confirmed the diagnosis. ( info) |
15/22. X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment. ( info) |
16/22. association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome. The association of palmoplantar keratoderma (PPK) with the development of cutaneous squamous cell carcinomas (SCCs), dental anomalies, severe hypogenitalism with hypospadias, abnormal development of gonads with ambiguous external genitalia, gynecomastia, altered plasma sex hormones levels, and hypertriglyceridemia has not, to our knowledge, been reported previously. We describe it in 4 brothers with 46,XX karyotype, whereas the 5 sisters of their consanguineous parents were unaffected. This family may represent a new syndrome. The PPK was of the classical nonepidermolytic histologic type. The proband also had a laryngeal carcinoma diagnosed in his early forties and nodular testicular hyperplasia of leydig cells. ( info) |
17/22. An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. FG syndrome is an X-linked multiple congenital anomalies (MCA) syndrome. It has been mapped to four distinct loci FGS1-4, through linkage analysis (Xq13, Xp22.3, and Xp11.4-p11.3) and based on the breakpoints of an X chromosome inversion (Xq11:Xq28), but so far no gene has been identified. We describe a boy with FG syndrome who has an inherited duplication at band Xq22.3 detected by comparative genomic hybridization microarray (Array-CGH). These duplication maps outside all four loci described so far for FG syndrome, representing therefore a new locus, which we propose to be called FGS5. MID2, a gene closely related to MID1, which is known to be mutated in Opitz G/BBB syndrome, maps within the duplicated segment of our patient. Since FG and Opitz G/BBB syndromes share many manifestations we considered MID2 a candidate gene for FG syndrome. We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication. ( info) |
| The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. ( info) |
19/22. McLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene. A 50-year-old man presented with worsening, virtually lifelong, chorea and progressive behavioural disturbance, involving disinhibition and hoarding, over 10 years. Clinical assessment revealed chorea, dysarthria, areflexia, an inappropriately jovial, impulsive manner and neuropsychological evidence of frontosubcortical dysfunction. Investigation results included an elevated creatine kinase, caudate atrophy and hypoperfusion, acanthocytes in the peripheral blood and the McLeod phenotype. dna studies demonstrated a single-base deletion at position 172 in exon 1 of the XK gene, giving rise to a premature stop codon at position 129 in exon 2. ( info) |
| cytogenetic analysis of a young woman with gonadal dysgenesis and bilateral gonadoblastoma shared a male karyotype with a rearranged y chromosome, interpreted as a pericentric inversion. The breakpoints, defined by fluorescent in situ hybridization (FISH), were located on the very distal short arm on band Yp11.31 and in the middle of the Yq12 long arm heterochromatic region. FISH analysis documented that the short arm breakpoint was 93 Kb distal to SRY and disrupted the CD99 gene, which was transposed to the distal portion of Yq12. The proposita's phenotype was similar to that of XY individuals with gonadal dysgenesis but without signs of Ullrich-turner syndrome. There were no mutations in the SRY gene. cytogenetic analysis in the proposita's father showed mosaicism of a normal y chromosome and several different rearrangements, such as deletion of a heterochromatin portion at band Yq12.2, a fragile site at the same band, structural rearrangements between the Y-chromosome and other autosomes, Y-chromosome aneuploidies, and "Premature centromere Division" (PCD) anomaly. The proposita's inverted y chromosome appears to have originated from paternal y chromosome instability. The patient's female phenotype could be due to SRY CpG methylation-mediated positional effects (PEV). ( info) |