Tshilobo Lukusa

Learn More
Fragile sites are heritable specific chromosome loci that exhibit an increased frequency of gaps, poor staining, constrictions or breaks when chromosomes are exposed to partial DNA replication inhibition. They constitute areas of chromatin that fail to compact during mitosis. They are classified as rare or common depending on their frequency within the(More)
Deletions in chromosome 14q22-23 have been associated with variable manifestations including malformations of the eye, limbs, palate, and brain, and with developmental and growth delay. Haploinsufficiency of BMP4, OTX2 and possibly SIX6 are thought to contribute to the phenotype. We present a three generation family with four individuals carrying a 2.79 Mb(More)
The present study was performed to determine if the fra(X)(q27.3) site is inherently a high sister chromatid exchange (SCE) site independent of fragility. Therefore, we studied baseline and ethyl methane sulfonate (EMS)-induced SCEs in peripheral blood lymphocytes from 10 retarded fragile-X male patients and eight retarded nonfragile-X male controls. The(More)
We report on a 6-year-old male patient with de novo 7q36 deletion and 8q24.3 duplication diagnosed by combining traditional G-banding and FISH studies. His clinical history was remarkable for pre- and postnatal growth retardation, neonatal feeding problems and developmental/mental retardation with non-verbal communication. He presented microcephaly, large(More)
Werdnig-Hoffmann Disease: Report of the first case clinically identified and genetically confirmed in Central Africa (Kinshasa-Congo): Type 1 spinal muscular atrophy (SMA1) or Werdnig-Hoffman disease is rarely described in black populations. We report on one black patient diagnosed in Kinshasa. This patient was referred to Paediatric consultation at the age(More)
A male patient is reported with terminal 10q26 deletion, developmental retardation, special behaviour, and multiple clinical anomalies including hypotonia, short stature of postnatal onset, short webbed neck, craniofacial dysmorphism, pectus excavatum with widely spaced small nipples, cryptorchidism with scrotal hypoplasia, limb and musculoskeletal(More)
We describe a 3-year-old girl with pure 17q25.3 duplication and a complex clinical presentation comprising psychomotor/mental retardation, growth retardation and most dysmorphic features of partial duplication 17q syndrome with, additionally, a striking distal arthrogryposis. The duplication size was maximum 2.46 MB, being thus, to the best of our(More)
A 40 year-old dysmorphic and mentally retarded female is reported with a de novo unbalanced chromosomal rearrangement (karyotype: 46,XX,der(8)t(8;13)(p23;q123),idic(13)(pter-->q123: q123-->pter) resulting in an isodicentric chromosome 13 and a double aneusomy including partial trisomy 13 (13pter-q123) and distal monosomy 8p (8pter-p23). The main clinical(More)
To stress the importance of gonadal dysgenesis in the genesis of gonadoblastoma in the presence of the Y-chromosome, the authors report their experience on 7 patients with 46, XY Pure Gonadal Dysgenesis (PGD) and 14 patients with complete or incomplete forms of Testicular Feminization (TF) syndrome. The diagnostic criteria and the clinical and pathological(More)
Clinical and cytogenetical findings are reported and discussed on two siblings with discordant phenotypes despite having both a terminal 11q deletion and a distal 12q duplication resulting from an unbalanced segregation of a balanced translocation t(11:12)(q23:q24.1) mat. The oldest child, a girl, is the index patient. Her clinical features include(More)