Ray SocietyThe thickness of the bladder wall was measured sonographically in 410 children (1 day to 19 years old) and in 10 adults. None had complaints related to the urinary tract. The bladder wall thickness varied mostly with the state of bladder filling and only minimally with age and gender. The normal bladder wall had a mean thickness of 2.76 mm when the bladder is almost empty and 1.55 mm when ft is distended.There is a linear relationship between bladder fullness and bladder wall thickness; the upper limits are 3 and 5 mm for a full or empty bladder respectively.
Materials and MethodsThe study included 41 0 children (age range, 1 day to i 9 years) and 10 adults (age range, 19 to 42 years).
Pallister–Killian syndrome (PKS) is the most frequent form of partial autosomal tetrasomy 12p in humans. Sufferers have a mosaic of isochromosome 12p [i(12p)]. We report the first pre‐natal diagnosis on fetal blood cells after cordocentesis during the second trimester. The extra chromosome was first diagnosed by in situ hybridization. Fluorescence in situ hybridization (FISH) was used to count the interphase and/or metaphase cells containing the isochromosome. A review of the literature identified 27 other reports of PKS diagnosed pre‐natally. We showed that the most consistent pre‐natal ultrasound findings include hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia and hydramnios. Recognition of this congenital malformation pattern pre‐natally may allow utilization of FISH.
Pallister Killian syndrome (PKS) is the most frequent form of partial autosomal tetrasomy 12p in humans. Sufferers have a mosaic of isochromosome 12p [i(12p)]. We report the first pre-natal diagnosis on fetal blood cells after cordocentesis during the second trimester. The extra chromosome was first diagnosed by in situ hybridization. Fluorescence in situ hybridization (FISH) was used to count the interphase and/or metaphase cells containing the isochromosome. A review of the literature identified 27 other reports of PKS diagnosed pre-natally. We showed that the most consistent pre-natal ultrasound findings include hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia and hydramnios. Recognition of this congenital malformation pattern pre-natally may allow utilization of FISH.
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