Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;q11)

The case of a 6-year-old boy with bilateral retinoblastoma (RB) and apparently de novo balanced translocation t(2;9)(q11;p11) is presented. The normality of 13q14 chromosome region has been confirmed using high resobution techniques and Esterase D assay.The hypothesis that this RB might be correlated to the translocation is discussed.P.B. is a resident geneticist at the Centre de Génétique Médicale     

De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia

The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. Conclusion:the current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.Abbreviation KFA Klippel-Feil anomaly     

急性淋巴细胞性白血病患儿dic(8;9)(p11;q11) 染色体继发t(9;22)(q34;q11)核型异常一例

t(9;22)(q34;q11)是急性淋巴细胞性白血病(acute lymphoblastic leukemia ,ALL)中常见的原发性核型改变,其作为继发性核型异常则较少见.近来我们发现一例dic(8;9)(p11;q11)继发t(9;22)(q34;q11) 的ALL,并对其进行了间期荧光原位杂交(fluorescence in situ hybridization,FISH)的研究,证实了dic(8;9)和bcr/abl融合基因的存在.逆转录聚合酶链反应(RT-PCR)检测其基因产物为p210bcr/abl,现报告如下.     

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

We report a female fetus with sirenomelia with 46,X,t(X;16)(p11.23;p12.3) de novo. Fluorescence in situ hybridization (FISH) with bacterial artificial chromosomes were employed for narrowing down the breakpoint regions. On chromosome 16, the breakpoint was mapped in the region of RP11‐453F10 (19 920 640–20 118 153 bp from 16pter). On chromosome X, the breakpoint was mapped in the region of RP11‐794A15 (47 333 744–47 524 066 bp from Xpter). This is the first case report of sirenomelia associated with translocations. The abnormal phenotype, associated with a balanced translocation, was caused by deletion or breakage of dosage‐sensitive genes of the breakpoint, disruption of an imprinted gene, or uniparental disomy. Although the parental origin of normal 16 and der(16) remained undetermined, this case will provide insight into the pathogenetic mechanism of sirenomelia.     

Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)

We report on a 21 month old boy with congenital anomalies and a trisomy of the short arm of chromosome 4 as result of a maternal translocation 4/8 with meiotic 3:1 segregation. Karyotype/phenotype correlation is compared with other reported cases and discussed in a context of nearly pure trisomy 4p.     

Wilms' tumor,malformative syndrome,mental retardation and de novo constitutional translocation,t(7;13)(q36;q13)

An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. The patient presented a facial dysmorphism with hydrocephaly and mental retardation associated with a Wilms' tumor. A pure coincidence of random association cannot be ruled out but one can equally assert the plausibility of a minimal unnoticed deletion or a position effect.     

Congenital acute megakaryoblastic leukemia (M7) with chromosomal t(1;22)(p13;q13) translocation in a set of identical twins.

Chromosomal translocations at t(1;22)(p13;q13) have been reported to occur in a number of infants with acute megakaryoblastic leukemia. A set of female twins with acute megakaryoblastic leukemia are reported with this unique translocation of 1p13 to 22q13. The twins presented at 2 months of age with fever and poor feeding and subsequently developed progressive hepatosplenomegaly. One twin died before treatment could be started; the other became septicemic 5 days after initiation of chemotherapy and eventually died.     

Non-immunologic hydrops fetalis (NIHF)--case report of double partial trisomy 15q and 17q resulting from familial translocation 15/17 and cytogenetic findings in 50 cases with hydrops fetalis

We report the first case of non-immune hydrops fetalis (NIHF) with trisomy 15q11/17q22.5 resulting from a familial translocation 15/17. Furthermore the cytogenetic findings of 50 cases with hydrops fetalis are presented. Of the 30 cytogenetic analyzable cases 7 showed chromosomal abnormalities (4x45,X; 2x47,XY,+21; 1x47,XY,+13). In every case of NIHF a chromosomal analysis should be performed if possible from different tissues.     

A novel t(3;8)(p13;q21.1) translocation in a case of lipoblastoma

Lipoblastoma is a rare benign neoplasm of embryonic white fatty tissue primarily found in the extremities of children <3 years old (Batanian et al., Cancer Genet Cytogenet 125(1):10-13, 2001; McVay MR et al., J Pediatr Surg 41(6):1067-1071, 2006; Kamal et al., J Pediatr Surg 46(7):E9-E12, 2011). Translocations affecting the 8q11-13 region are commonly reported with lipoblastoma and proper diagnosis requires cytogenetic analysis to distinguish it from malignant myxoid liposarcoma (Miller et al., J Pediatr Surg 32(12):1771-1772, 1997; Morerio et al., Pediatr Blood Cancer 52(1):132-134, 2009). We describe an additional case of lipoblastoma containing a new translocation t(3;8)(p13;q21.1), which has not previously been reported in a healthy asymptomatic child.     

De novo interstitial duplication 4(q28.1q35) associated with choanal atresia

We report a case of direct interstitial duplication of chromosome 4 from 4q28.1 to 4q35 associated with bilateral choanal atresia. The child also had dysmorphic features including a broad nasal bridge, telecanthus, downward slanting palpebral fissures, prominent ears, mild bilateral clinodactyly of the 5th fingers and bilateral hypoplasia of the 2nd-5th toenails. There was also a slightly dilated renal collecting system. At the age of 2.5 years, he had moderate global developmental delay, short, wide and tapering fingers, and short toes with hypoplastic toenails. To our knowledge, this is the second report of choanal atresia in a patient with trisomy 4q involving this region.     

Hemihypotrophy in a girl with a translocation t(13q;7p)

A 10 year old girl with a mental age of 7–8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.Supported by grants of the National Council of the Scientific and Technologic Development (CNPq/PIG) — Brazil, and by DHEW/USPHS Grant GM20 130 from the National Institute of General Medical Sciences. Contributed, in part, as paper number 1962 from the University of Wisconsin Genetics Laboratory     

Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat

We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. Conclusion This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination. Received: 26 February 1998 / Accepted: 28 May 1998     

Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3)

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case, of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.     

A translocation t(5;15)(q15;q11-13) infant case with acute lymphoblastic leukemia and literature review: prognosis implications

Infant acute lymphoblastic leukemia (ALL) represents poor prognosis despite intensive chemotherapy. Rearrangements of chromosome 11q23 are not observed in 34% of the cases. Infant ALL patients with t(5;15)(p15;q11-13) are rare and sporadic. In large series of infant ALL studies, 6 patients have been reported. We present a new case of an infant ALL patient with t(5;15)(p15;q11-13), and a literature review. Considering the data provided by our case and previous reports, we reinforce that this chromosomal abnormality is characteristic of ALL patients under 12 months of age sharing break point in 5p15 and 15q11-13 and strengthen the existence of an infant ALL subgroup characterized by pre-B L1 ALL, CD10-positive, complete remission (100%), and event-free survival (71%), with a relatively good prognosis and clearly less severe than the 11q23 rearrangement cases. This abnormality can be considered a recurrent abnormality on this nosologic group.