Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12)

Dallapiccola, Bruno; Chessa, Luciana; Vignetti, P; Ferrante, Emanuele; Gandini, E.

doi:10.1007/bf00295588

Cited by 15 publications

(6 citation statements)

References 8 publications

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“…The variation percent ranged between + 141 and +53, and was proportionally higher in younger patients, as compared to healthy age-matched controls. In this re spect we note that, at first examination, case 3 showed a + 242 variation percent of RBC HKI activity [Dallapiccola et al, 1979], while at the age of 6 years the + 53 variation percent well compared with that expected for a sesquialteral gene dosage effect.…”

Section: Resultsmentioning

confidence: 93%

Regional Mapping of Hexokinase-1 within the Short Arm of Chromosome 10

Dallapiccola¹,

Novelli

Micara³

et al. 1984

Hum Hered

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Section: Resultsmentioning

confidence: 93%

Regional Mapping of Hexokinase-1 within the Short Arm of Chromosome 10

Dallapiccola¹,

Novelli

Micara³

et al. 1984

Hum Hered

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“…Dallapiccola et al . determined hexokinase activity in the red blood cells of 5 patients with various partial duplications of 10p and also demonstrated an increase in HK1 activity in patients with 10p duplications (9, 10). Although Daniele et al .…”

Section: Discussionmentioning

confidence: 90%

Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication

Giri

Patil

Hart

et al. 2017

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Summary Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks’ gestation with birth weight of 3.33 kg (−0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion. The diagnosis of congenital hyperinsulinism (CHI) was biochemically confirmed by inappropriately high plasma concentrations of insulin and C-peptide and low plasma free fatty acids and β-hydroxyl butyrate concentrations during hypoglycaemia. Sequencing of ABCC8, KCNJ11 and HNF4A did not show any pathogenic mutation. Microarray analysis revealed a novel duplication in the short arm of chromosome 10 at 10p13–14 region. This is the first reported case of CHI in association with PS and 10p duplication. We hypothesise that the HK1 located on the chromosome 10 encoding hexokinase-1 is possibly linked to the pathophysiology of CHI. Learning points: Congenital hyperinsulinism (CHI) is known to be associated with various syndromes. This is the first reported association of CHI and Poland syndrome (PS) with duplication in 10p13–14. A potential underlying genetic link between 10p13–14 duplication, PS and CHI is a possibility.

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“…Two cases of dup(l0p) [Aller et al, 1979;Dallapicola et al, 1979 Most of the translocations involved acrocentric chromosomes. In eight families (12 patients) the acrocentric chromosomes were number 14, 15, 21, and 22; in 13 families (19 patients), the nonacrocentric chromosomes involved were 3, 4, 5, 7, 8, 12, 18, and 20.…”

Section: Discussionmentioning

confidence: 99%

Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12)

et al. 1983

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We present a dup (10p) due to a t(10;14) (p11;p12)mat with a malformation syndrome in a girl. The analysis of 37 published cases shows that 31 patients (16 males; 15 females) had either a mother or a father carrying a balanced translocation; one case was due to a paternal and another due to a maternal pericentric inversion; two cases were due to de novo translocations; one case had a partial duplication of 10p; and one case had a supernumerary ring chromosome composed of 10p material. The phenotypic spectrum of the condition was analyzed. It is a specific multiple congenital anomalies/mental retardation (MCA/MR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lips), postnatal growth retardation, severe mental and psychomotor retardation, and several major and minor anomalies. Pseudohermaphroditism seems to be an important anomaly being present in 15 to 20% of affected males. A hypothenar crease together with a transverse crease forming a "crease triangle" seems a helpful sign in the clinical diagnosis of duplication 10p.

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Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12)

Cited by 15 publications

References 8 publications

Regional Mapping of Hexokinase-1 within the Short Arm of Chromosome 10

Regional Mapping of Hexokinase-1 within the Short Arm of Chromosome 10

Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication

Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12)

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