Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.

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Abstract

We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.
Lingua originaleEnglish
pagine (da-a)186-190
Numero di pagine5
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume126A
Stato di pubblicazionePublished - 2004

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Hypercalciuria
Congenital Heart Defects
Chlorine
Kidney
Phosphorus
Magnesium
Potassium
Sodium
Genes
Calcium
Calcium-Sensing Receptors
Calcitonin
Cleft Palate
Parathyroid Hormone
Foot
Ultrasonography
Milk
Hand
Chromosomes
Newborn Infant

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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title = "Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.",
abstract = "We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.",
author = "Giovanni Corsello and Mario Giuffre and {La Placa}, Sergio and Maria Piccione and Ferdinando Meli",
year = "2004",
language = "English",
volume = "126A",
pages = "186--190",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",

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TY - JOUR

T1 - Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q.

AU - Corsello, Giovanni

AU - Giuffre, Mario

AU - La Placa, Sergio

AU - Piccione, Maria

AU - Meli, Ferdinando

PY - 2004

Y1 - 2004

N2 - We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.

AB - We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.

UR - http://hdl.handle.net/10447/15273

M3 - Article

VL - 126A

SP - 186

EP - 190

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

ER -