Diagnostic Methods of Global Developmental Delay Caused by 10q24.3 Heterozygous Loss： A Case Discussion / 中山大学学报(医学科学版)

ObjectiveTo discuss the diagnostic methods of global developmental delay caused by 10q24.3 heterozygous loss. MethodsA retrospective analysis was conducted on the clinical data of one child with global developmental delay， and the results of low depth whole-genome copy number variation sequencing （CNVseq） and family whole exome sequencing （WES） of the child and his parents. ResultsThe patient was a 10-month-old male with developmental retardation in four areas， with some special features （ocular hypertelorism， strabismus， flat nose bridge， protruding forehead， cleft palate， high palatal arch， etc.） and hypotonia of limbs. The CNVseq and WES test showed that the patient had new 10q24.3 heterozygosis loss. Because this region contains the gene SUFU associated with basal cell nevus syndrome and the gene CNNM2 associated with hypomagnesemia， seizures， and mental retardation， and the gene TRIM8 associated of Focal segmental glomerulosclerosis with neurodevelopmental syndrome， we speculated that the cause of the disease in the child was highly related to the heterozygosity deletion of SUFU gene and CNNM2 gene and TRIM8 gene. ConclusionGenetic testing should be improved as soon as possible for children with global developmental delay and special facial manifestations， so as to make clear diagnosis and to judge prognosis.

Duplicación 10q23q24, un rearreglo cromosómico asociado a anomalías congénitas múltiples / 10q23q24 duplication, a chromosome rearrangement associated with multiple congenital anomalies

La duplicación en el brazo largo del cromosoma 10 (10q) es una cromosomopatía poco frecuente caracterizada clínicamente por retraso en el crecimiento prenatal y postnatal asociado a hipotonía, retraso en el desarrollo y hallazgos faciales específicos; que representa un reto diagnóstico en el ámbito clínico. Se presenta el caso de una recién nacida remitida para valoración multidisciplinara al Hospital Universitario San Ignacio en Bogotá, Colombia; en quien se documentó al momento del nacimiento fisura de labio y paladar, hipertelorismo, pabellón auricular con implantación baja e hipertrofia de labios menores. Se realizó resonancia magnética cerebral, la cual reportó pequeños quistes connatales adyacentes a las astas frontales de los ventrículos laterales, sin significado patológico, aparente malrotación de ambos hipocampos, hipertelorismo y queilopalatosquisis bilateral. El reporte del cariotipo con bandeo G confirmó complemento cromosómico 46,XX,dup(10)(q23q24); siendo el primer caso reportado en Colombia.

Duplication on the long arm of chromosome 10 (10q) is a rare chromosomopathy characterized clinically by delayed prenatal and postnatal growth associated with hypotonia, delayed development, and specific facial findings, which represents a diagnostic challenge in the clinical setting. We present the case of a newborn referred for multidisciplinary evaluation at the Hospital Universitario San Ignacio in Bogotá, Colombia; in whom cleft lip and palate, hypertelorism, low-set auricle and hypertrophy of the labia minora were documented at birth. Magnetic resonance imaging of the brain was performed, which reported small connatal cysts adjacent to the frontal horns of the lateral ventricles, without pathological significance, apparent malrotation of both hippocampi, hypertelorism, and bilateral cheilopalatoschisis. The G-band karyotype report confirmed chromosomal complement 46, XX, dup (10) (q23q24); being the first reported case in Colombia.

An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)(pter-->q26.3::p11.2-->pter) by cytogenetic and molecular cytogenetic analyses including high resolution GTG- and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

A Case of Partial Monosomy 10q with Partial Trisomy 22q due to Maternal Balanced Translocation

Partial monosomy of chromosome 10q is a rare chromosomal anomaly. Most cases of partial deletion 10q have chromosome breakpoints in the 10q25 or 10q26 region. Recently about 30 cases with breakpoint in the 10q26 region have been reported. Partial trisomy of chromosome 22q is also a rare chromosomal anomaly. Most cases of partial duplication 22q are 22q proximal segment duplications known as Cat-eye syndrome. The other cases, 22q11.2 microduplications and 22q distal long arm (22qter) duplications, are also reported but exceedingly rare. We experienced a male neonate who had facial dysmorphisms, congenital heart defect and cryptorchidism. His chromosomal analysis revealed an deletion of chromosome 10q26.1-->qter and duplication of chromosome 22q11.2-->qter caused by maternal balanced translocation e.g. partial monosomy 10q and partial trisomy 22q. Although some cases of partial monosomy 10q were accompanied by other chromosomal abnormalities, this combination of chromosomal abnormalities has not been reported in the literature.

Loss of Heterozygosity Analysis of PTEN and DMBT1 Loci in Pediatric Brain Tumors / 대한소아혈액종양학회지

PURPOSE: PTEN and DMBT1, candidate tumor suppressor genes on chromosome 10q, were identified based on deletions in glioblastoma and medulloblastoma cell lines. We examined the occurrences and frequencies of allelic deletions on chromosome 10q23 and 10q25 by loss of heterozygosity (LOH) analysis in 24 pediatric brain tumors to investigate the possible involvement of PTEN and DMBT1 gene deletions in the development of pediatric brain tumors. METHOD: LOH was analyzed by polymerase chain reaction (PCR) of PTEN locus on 10q23 using 2 microsatellite markers, D10S608 and D10S579, and of DMBT1 locus on 10q25-q26.1 using a microsatellite marker, D10S587, in 24 pediatric brain tumor (18 medulloblastomas, 3 ependymomas, 2 glioblastomas and 1 supratentorial primitive neuroectodermal tumor) DNAs extracted from archival tissue specimens (case 1-15, 19) or fresh frozen tissue specimens (case 16-18, 20-24). RESULTS: Allelic deletions were detected in 4 of 23 informative cases (17%) on D10S608, 6 of 24 informative cases (25%) on D10S579, and 8 of 24 informative cases (33%) on D10S587. Overall 11 of 24 cases (46%) showed LOH on chromosome 10q at PTEN or DMBT1 loci, and they were 10 medulloblastomas and 1 ependymoma pathologically. Of 18 medulloblastomas, 7 (39%) exhibited LOH at PTEN locus, 8 (44%) exhibited LOH at DMBT1 locus, and 10 (56%) exhibited LOH at one or both of loci. CONCLUSION: Our results support the notion that PTEN and DMBT1 tumor suppressor gene deletions may be involved in the pathogenesis of pediatric brain tumors. Our results also suggested that PTEN and DMBT1 tumor suppressor gene deletions may not be important in molecular mechanism of glioblastoma development in children as in adults.

Partial Trisomy 10q from Maternal Balanced Insertion (15;10)(q22;q22q24) / 대한산부인과학회잡지

A balanced insertion of a parent may produce normal or carrier offsprings, spontaneous abortions, and chromosomally unbalanced offsprings. This is a rare report of duplication of chromosome 10q22->q24 which has arisen through the segregation of a balanced direct insertion. The partial trisomy 10q is a specific syndrome of mental retardation and malformation characterized by psychomotor delay, growth restriction, distinctive dysmorphic appearances, and, in some cases, cardiac, renal, and ocular abnormalities. We have experienced a case of partial trisomy 10q from maternal balanced insertion, which was prenatally showed severe fetal growth restriction and oligohydramnios, and present it with a brief review of literatures.

A Case of Distal 10q Partial Trisomy Syndrome / 대한소아신경학회지

Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.

A Cse of Partial Trisomy 10q Syndrome / 대한주산의학회잡지

Partial trisomy 10q syndrome is a rare chromosome anomaly characterized by severe mental and growth retardation, craniofacial dysmorphia with prominent forehead, fine arched eyebrows, deep set small eyes and micrognathia, In addition, other physical manifestations have been reported as skeletal anomaly, congenital heart disease, inguinal hernia, and so on. We report a case of partial trisomy 10q syndrorne with certain stigmata which confirmed by chromosome analysis.

MUTATION OF PTEN AND LOSS OF HETEROZYGOSITY ON 10q IN OLIGODENDROGLIMAS / 解剖学报

Objective To detect the PTEN gene mutation and loss of heterozygosity(LOH) on chromosome 10q in oligodendrogliomas. Methods The entire PTEN coding sequence of the 9 exons were screened by 9 different PCR reactions and followed by denaturing gradient gel electrophoresis(DGGE) and direct sequencing for detecte mutation.Microsatellite markers with fluorochrome on 10?q amplified by PCR were used to detecte LOH by PAGE on an automatic sequencer and analyzed with the Gene Scan program in 55 oligodendrogliomas and mixed oligodendrogliomas. Results The PTEN gene somatic mutations were detected in 2 tumors,one case that carried a PTEN mutation deletion T base in position 20 resulting stop codon moved to 347.Another case was a A to C transition at the codon 139 resulting in changeing from Leu to Phe.Twenty\|three of 55(42%) cases were observed the loss of heterozygosity(LOH) on chromosome 10?q.Fifteen of 55 cases allelic loss were detected on loci D10S 541 which located in the PTEN gene region at 10?q 23^3 .Twelve of 55 cases were detected totaled LOH on 10?q.Conclusion\ The PTEN gene mutation is rare,loss of allelic 10?q is frequente in oligodendrogliomas,especially in high\|grade oligodendrogliomas.It could indicate that LOH on 10?q has an enhance effect in tumor progression,and chromosome 10?q harbors additional tumor suppressor genes in oligodendrogliomas.\;[