A Boy with Xxxxy Sex Chromosomes.
نویسندگان
چکیده
Eight patients with XXXXY sex chromosomes are on record (Fraccaro, Kaijser, and Lindsten, I960; Miller, Breg, Schmickel, and Tretter, I96I; Fraser, Boyd, Lennox, and Dennison, I96I; Fraccaro, Klinger, and Schutt, I962; Barr, Carr, Pozsonyi, Wilson, Dunn, Jacobson, and Miller, I962; Pfeiffer, I962; Schade, Sch6ller, and T6berg, I963). In addition two similar patients with a mosaic pattern have been reported (Anders, Prader, Hauschteck, Scharer, Siebermann, and Heller, I960; Harnden and Jacobs, I96I). We here describe a further patient with XXXXY sex chromosomes in whom congenital heart disease, mental deficiency, dwarfism, abnormal genitalia, and an unusual facies were present.
منابع مشابه
Neonatal diagnosis of 49, XXXXY syndrome
BACKGROUND 49, XXXXY syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. The classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. CASE A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet...
متن کاملChromosome banding studies in two patients with XXXXY syndrome.
In 2 adult male patients with 49 chromosomes, an XXXXY sex chromosome constitution was confirmed by trypsin-Giemsa banding sites. Clinical findings as well as fingerprint ridge counts were typical of the syndrome. Primary hypogonadism was documented by finding low serum testosterone and raised serum LH and FSH levels. Several radiological abnormalities, not previously described in this syndrome...
متن کاملThe XXXXY sex chromosome abnormality.
The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two m...
متن کاملCongenital knee dislocation in a 49,XXXXY boy.
We report on a 12 year old mentally retarded boy who presented at birth with bilateral knee dislocations, dislocation of the right hip, and general joint laxity. Cytogenetic studies showed a 49,XXXXY karyotype. Hyperlaxity of joints is known to occur in 49,XXXXY patients, but congenital knee dislocation has not been reported. Rarely in 49,XXXXY and 49,XXXXX syndromes Larsen-like features may be...
متن کاملFalse Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY
Introduction Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 33 6/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 13 6/7 weeks. Anatomy survey showed bilateral clubfeet, clin...
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عنوان ژورنال:
- Journal of medical genetics
دوره 1 2 شماره
صفحات -
تاریخ انتشار 1964