A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.

Background: Non-acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non-acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known.

Case Presentation: A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of ARID1B located in 6q25.

Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.

Williams-Beuren syndrome (WBS) has a prevalence of 1/7500-20000 live births and results principally from a deletion in 7q11.23 with a length of 1.5 Mb or 1.

22q11.2 deletion detected by hybridization in Mexican patients with velocardiofacial syndrome-like features.

Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies.

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.

In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25.

Assessing glycaemic variability with continuous glucose monitoring system before and after continuous subcutaneous insulin infusion in people with Type 1 diabetes.

We evaluated glycaemic variability with continuous glucose monitoring system in 31 people with Type 1 diabetes mellitus using multiple daily injections initially and after switching to continuous subcutaneous insulin infusion. There was a significant improvement in HbA1c, mean glucose, standard deviation of mean glucose and in hyperglycaemic excursions with CSII.

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

Here, we report two cases with isolated distal 11q rearrangement and multiple congenital anomalies. The first patient is a two-and-a-half year old male referred to our genetics clinic due to dysmorphic features and developmental delay including speech delay. Using conventional and molecular cytogenetic techniques, we demonstrate that he carries a recombinant chromosome with duplication of the 11q23.

Topology of constitutional reciprocal translocations in metaphase.

We studied in 39 carriers of 26 reciprocal translocations (including five de novo and seven of indeterminate occurrence) the metaphase localization of the derivative chromosomes, their normal non-homologous counterparts (here called A and B), and two control pairs (C and D). In eight familial translocations, we analysed two to five carriers. We digitally captured 10 G-banded lymphocyte metaphases per individual and measured in microns the largest diameter (d) of the metaphase and six intercentromeric distances: (1) der A<-->der B (problem distance 1, pd1), (2) der A<-->B (pd2), (3) der B<-->A (pd3), (4) A<-->B (control distance 1, cd1), (5) the smaller distance between C and D (cd2) and (6) the largest distance between C and D (cd3); in addition, the average between C and D (cd4) was calculated.

Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23).

There have only been eight patients with 6p pure trisomy involving different segments: four cases resulted from a translocation or insertion and four were due to an intrachromosomal duplication. We report here the first postnatally ascertained patient with a pure 6p partial trisomy due to an interchromosomal insertion (16;6)(p12;p21.2p23)mat.