• Clinical and Experimental Pediatrics
• /
• v.59 no.sup1
• /
• pp.10-13
• /
• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• Journal of Interdisciplinary Genomics
• /
• v.6 no.1
• /
• pp.1-5
• /
• 2024

Chromosome 22 is an acrocentric chromosome containing 500-600 genes, representing 1.5%-2% of the total DNA in cells. It was the first human chromosome to be fully sequenced by the Human Genome Project. Several syndromes involving the partial deletion or duplication of chromosome 22 are well descibed, including 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q11.2 distal deletion syndrome, Phelan-McDermid syndrome caused by a 22q13 deletion or pathogenic variant in SHANK3, and cat-eye syndrome caused by a 22 pter-q11 duplication. This review aims to provide concise information on the clinical characteristics of these syndromes. In particular, the similarities in features among these syndromes, genetic basis, and standard detection techniques are described, providing guidance for diagnosis and genetic counselling.

• Korean Journal of Clinical Laboratory Science
• /
• v.47 no.4
• /
• pp.209-215
• /
• 2015

Colorectal carcinoma is one of the four major cancers in Korea, and it shows the tendency of increase every year due to economic development and changes to western styles. Accordingly, various diagnostic methods are needed and so comparative genomic hybridization (CGH) was performed. Deletion was detected on 5q (10%), 10q (17%), 17p (40%), 18p (23%), 18q (47%), 22q (23%), and higher deletion loci were 18q (12/30, 47%), 17p (12/30, 40%), and 22q (7/30, 23%). Amplification was shown on chromosomes 6pq (10%), 7p (17%), 7q (33%), 8q (13%), 9pq (10%), 12q (17%), 13q (37%), 20p (23%), and 20q (57%) respectively. The highest amplification was detected on chromosomes 20q (17/30, 57%), 13q (11/30, 37%), and 7q (10/30, 33%). The genetic change pattern with the locus of colorectal carcinoma was shown mean 3.1 (amplification 1.7, deletion 1.4) on the right colorectal carcinoma, while rectal carcinoma appeared high mean 6.3 (amplification 3.7, deletion 2.6) (p<0.001). The genetic change pattern with lymphatic gland metastasis, mean 3.5 (amplification 2.2, deletion 1.3) from "no metastasis" group, while high mean 6.3 (amplification 3.5, deletion 2.8) from metastasis group (p<0.003). The genetic change pattern with disease stages appeared mean 3.5 (amplification 2.1, deletion 1.4) from I-II stages, while high mean 6.0 (amplification 3.4, deletion 2.6) from III-IV stages (p<0.006). No significance was observed in comparing histological classification and serum CEA increased groups.

• Clinical and Experimental Pediatrics
• /
• v.57 no.7
• /
• pp.333-336
• /
• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.4 no.1
• /
• pp.108-112
• /
• 2001

Nonsyndromic intrahepatic bile duct paucity is known to be associated with several kinds of etiology such as infection, chromosomal anomaly, metabolic disease and idiopathic. We report a rare case of intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion.

• Asian Pacific Journal of Cancer Prevention
• /
• v.13 no.8
• /
• pp.3825-3827
• /
• 2012

FISH is one of the most sensitive molecular methods to detect genetic abnormalities with DNA probes. When cytogenetic studies are normal or insufficient, FISH may detect cryptic rearrangements, rare or slowly proliferative abnormal populations in non-mitotic cells. We cytogenetically evaluated 70 childhood ALL - 67.1% were found to have an abnormal karyotype. The 23 patients (32.9%) with a normal karyotype were analyzed by FISH applying two probes; TEL/AML1 and MYB which detect cryptic rearrangements of t(12;21)(p13;q22) and deletion of (6q) respectively, associated with a good prognosis. Out of 23 patients, one was positive for t(12;21)(p13;q22) (4.3%). None of our patients were positive for MYB del(6q). Two patients showed an extra signal for MYB on chromosomes other than 6 (8.6 %) indicating amplification or duplication. Findings were compared with the available literature. Our study clearly indicated the integrated FISH screening method to increase the abnormality detection rate in a narrow range. FISH is less useful for diagnostic study of patients with suspected del(6q) but it helps in detecting known cryptic rearrangements as well as identification of new abnormalities(translocation , duplication and amplification) at the gene level.

• Molecules and Cells
• /
• v.24 no.1
• /
• pp.105-112
• /
• 2007

Most neuroblastoma cells have chromosomal aberrations such as gains, losses, amplifications and deletions of DNA. Conventional approaches like fluorescence in situ hybridization (FISH) or metaphase comparative genomic hybridization (CGH) can detect chromosomal aberrations, but their resolution is low. In this study we used array-based comparative genomic hybridization to identify the chromosomal aberrations in human neuroblastoma SH-SY5Y cells. The DNA microarray consisting of 4000 bacterial artificial chromosome (BAC) clones was able to detect chromosomal regions with aberrations. The SH-SY5Y cells showed chromosomal gains in 1q12~ q44 (Chr1:142188905-246084832), 7 (over the whole chro-mosome), 2p25.3~p16.3 (Chr2:18179-47899074), and 17q 21.32~q25.3 (Chr17:42153031-78607159), while chromosomal losses detected were the distal deletion of 1p36.33 (Chr1:552910-563807), 14q21.1~q21.3 (Chr14:37666271-47282550), and 22q13.1~q13.2 (Chr22:36885764-4190 7123). Except for the gain in 17q21 and the loss in 1p36, the other regions of gain or loss in SH-SY5Y cells were newly identified.

• Archives of Plastic Surgery
• /
• v.41 no.4
• /
• pp.344-349
• /
• 2014

Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was $136.5^{\circ}$ (standard deviation, $5.3^{\circ}$; range, $122.3-144.8^{\circ}$). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle ($138^{\circ}$ vs. $134^{\circ}$, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

• Korean Journal of Clinical Laboratory Science
• /
• v.39 no.2
• /
• pp.63-67
• /
• 2007

A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.

• Journal of Genetic Medicine
• /
• v.15 no.2
• /
• pp.64-71
• /
• 2018

Purpose: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were analyzed. Materials and Methods: We recruited 13 patients who presented with overgrowth syndrome. All patients fulfilled inclusion criteria of overgrowth syndrome. Analysis of the clinical and molecular investigations of patients with overgrowth syndrome was performed retrospectively. Results: Among the 13 patients with overgrowth syndrome, 9 patients (69.2%) were found to have molecular and genetic causes. Among the seven patients with Sotos syndrome (SS), two had a 5q35microdeletion that was confirmed by fluorescent in situ hybridization. In two patients with SS, intragenic mutations including a novel mutation, c.5993T>A (p.M1998L), were found by Sanger sequencing. One patient had one copy deletion of NDS1 gene which was confirmed by multiplex ligation-dependent probe amplification. Among five patients with Beckwith-Wiedemann syndrome, three had aberrant imprinting control regions; 2 hypermethylation of the differentially methylated region of H19, 1 hypomethylation of the differentially methylated region of Kv. In one patient displaying overlapping clinical features of SS, a de novo heterozygous deletion in the chromosomal region 7q22.1-22.3 was found by single nucleotide polymorphism-based microarray. Conclusion: Considering high detection rate of molecular and genetic abnormalities in this study, rigorous investigations of overgrowth syndrome may be an important tool for the early diagnosis and genetic counseling. A detailed molecular analysis of the rearranged regions may supply the clues for the identification of genes involved in growth regulation.