Chromosome 22 microdeletion in children with syndromic congenital heart disease by fluorescent in situ hybridization (FISH)

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. Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay). Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe. Results: Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12). Conclusion: In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families.

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Perilobar Nephrogenic Rests and Chromosome 22

Pediatric and Developmental Pathology ◽

10.2350/10-01-0781-cr.1 ◽

2011 ◽

Vol 14 (6) ◽

pp. 485-492 ◽

Cited By ~ 3

Author(s):

Reena MdZIN ◽

Marianne Phillips ◽

Caitlin Edwards ◽

Ashleigh Murch ◽

Adrian Charles

Keyword(s):

In Situ Hybridization ◽

Fluorescent In Situ Hybridization ◽

Wilms Tumor ◽

Microsatellite Analysis ◽

Chromosome 22 ◽

Hybridization Probe ◽

Genetic Changes ◽

Preferential Loss ◽

Nephrogenic Rests

Perilobar nephrogenic rests (NR) are precursor lesions that may display genetic changes similar to their associated Wilms tumor (WT). Two patients presented with WT, both with perilobar NR and 1 with bilateral, multifocal metachronous WT. Both patients' WT displayed monosomy 22 as the predominant cytogenetic change, and the constitutional cytogenetic analysis was normal. The purpose of our study was to identify at what stage in the morphologic progression from NR to WT the monosomy 22 occurred by using a fluorescent in situ hybridization probe for chromosome 22 in the subtypes of perilobar NR and WT present in both cases. Section and core fluorescent in situ hybridization with a chromosome 22 probe was performed on formalin-fixed, paraffin-embedded tissues containing WT and perilobar NR. We also performed fluorescent-based microsatellite analysis on some of the WT in the bilateral case to determine whether there was a preferential loss of the same allele of chromosome 22. Sclerotic and dormant perilobar NR showed a rate of monosomy 22 of only approximately 30%, but this increased to approximately 50% in hyperplastic and adenomatous NR. Monosomy 22 was present in 60%-80% of nuclei in WT. Microsatellite analysis showed loss of homozygosity, with preferential loss of the same allele of chromosome 22 in the tumors examined. There are differences in the rate of detection of monosomy 22 in perilobar NR and WT, suggesting loss of chromosome 22 in the progression of perilobar NR to WT in a subset of tumors.

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Pulmonary Embolism or Eisenmenger Syndrome?

International Cardiovascular Forum Journal ◽

10.17987/icfj.v8i0.257 ◽

2016 ◽

Vol 8 ◽

Author(s):

Anna L. Fanelli ◽

Gabriella Agnoletti ◽

Domenica Garabello ◽

Mauro Giorgi ◽

Chiara Calcagnile ◽

...

Keyword(s):

Pulmonary Embolism ◽

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Septal Defect ◽

Late Complication ◽

Defect Closure ◽

Eisenmenger Syndrome ◽

Suspected Pulmonary Embolism

<p>Eisenmenger syndrome is a late complication of untreated congenital heart disease associated with left to right shunt, that can prompt in situ pulmonary thrombosis.</p><p>Herein the case of a 41 year old man with suspected pulmonary embolism, where an atrial septal defect lead to Eisenmenger Syndrome, is presented. Only lung transplantation and surgical defect closure revealed to be the optimal treatment.</p>

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