Trisomy 3 mosaicism in a patient with Bartter syndrome.

Abstract

The diagnosis of Bartter syndrome was established in a 21 year old female patient, who presented with hypokalaemia and hyperkaluria, alkalosis, hyperreninism, hyperaldosteronism, and decreased fractional chloride reabsorption in the ascending limb of Henle's loop.Her stature was very short (140 cm) with otherwise normal body proportions. At birth, a coloboma of the right eye, dislocation of the left hip, and syndactyly of the second and third toes of the right foot were present. Since the age of 13, -she has suffered from recurrent attacks of gouty arthritis. At the age of 20, she presented with hyperglycaemia and glucosuria for which she had received insulin for one year. Family investigations revealed consanguinity between the parents (F=1/256).Karyotyping was first performed at the age of two, and showed trisomy 3 in 10% of leucocytes. At the age of 21, another cytogenetic evaluation was performed which revealed mosaicism for a normal and a trisomic cell line. In cultured blood leucocytes, a 47,XX,+3 karyotype was found in the majority of mitoses. In all cultivated skin fibroblasts, however, the karotype was 46,XX.Whether there is a causal relationship between trisomy 3 and Bartter syndrome is unknown. This association has not been reported before.Trisomy 3 is very rare in liveborn children. A case of trisomy 3 mosaicism was reported in a female baby who presented with severe failure to thrive and died at the age of five months.' She had a 47,XX, +3 complement in leucocyte cultures, but showed a normal 46,XX karyotype in skin fibroblasts. The baby had a large skull, low set, malformed ears, and

Rare Trisomy Mosaicism Diagnosed in Amniocytes, Involving an Autosome Other Than Chromosomes 13, 18, 20, and 21: Karyotype/Phenotype Correlations

“…One adult was reported to have severe mental retardation, short stature, and dysmorphic facies (Kuhn et al, 1987). One adult had short stature, coloboma, hip dislocation, and Bartter syndrome (DeKeyser et al, 1988). One infant with minor dysmorphism died at 5 months following a severe failure to thrive (Metaxotou et al, 1981).…”

Trisomy 3 mosaicism in a 5‐year‐old boy with multiple anomalies: A very rare case

“…Trisomy 3 is found in about 0.8% of the karyotyped first-trimester spontaneous abortuses [Jackson-Cook, 2011], but is not reported in live birth. In mosaic manner, trisomy 3 is extremely rare; only three female cases were reported in earlier published data [Metaxotou et al, 1981;Kuhn et al,1987;De Keyser et al, 1988], as shown in Table I. In the present study, we report a 5-year-old boy with trisomy 3 mosaicism who exhibits multi-system deformity, including short stature, atypical form of ectodermal dysplasias, refractory diarrhea, and limb anomalies. We detected the trisomy 3 in three different origin cells via fluorescence in situ hybridization (FISH) and short tandem repeat (STR) genotyping.…”

Misinterpretation of Trisomy 18 as a Pseudomosaicism at Third-Trimester Amniocentesis of a Child With a Mosaic 46,xy/47,xy,+3/48,xxy,+18 Karyotype

“…Up to now, four liveborn children, all females, with a trisomy 3 mosaicism have been described (Metaxotou et al, 1981;Kuhn et al, 1987;Smith et al, 1988;DeKeyser et al, 1988). The number of trisomy 3 cells in their peripheral leucocytes ranged from 3 to 86 per cent.…”

“…Three patients were mentally retarded and had microcephaly. In Table II Metaxotou et al (1981); Kuhn et al (1987); Smith et al (1988);DeKeyser et al (1988);Gorlin et al (1990). compared with the features found in the four patients with trisomy 3 mosaicism, and in trisomy 18 syndrome.…”