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1.
BMC Med Genomics ; 11(1): 44, 2018 05 08.
Article in English | MEDLINE | ID: mdl-29739404

ABSTRACT

BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations. CASE PRESENTATION: The proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was referred at the age of 8 months for genetic evaluation due to prenatal and postnatal growth retardation, developmental delay and multiple congenital anomalies. On clinical evaluation, she had craniofacial dysmorphic features such as scaphocephaly, large anterior fontanelle with open posterior fontanelle, prominent occiput, triangular face, high forehead, hypertelorism, down slanting eyes, flat nasal bridge, small nose, low set ears, micro-retrognathia, high arched palate and short neck. Cranial computerized tomography scan showed lateral ventriculomegaly with features of early cerebral atrophy. Conventional cytogenetic analysis showed the karyotype 46,XX,der(14)t(7;14)(q22;q32)mat in the proband due to an unbalanced segregation of a maternal balanced translocation t(7;14)(q22;q32). Fluorescence in-situ hybridization analysis confirmed the partial trisomy 7q22 → qter in the proband with a minimal loss of genetic material on chromosome 14. Single nucleotide polymorphism array further confirmed the duplication on chromosome 7q22.1 → qter and a small terminal deletion on chromosome 14q32.3 → qter. CONCLUSION: We report the longest-surviving child with trisomy 7q22 → qter due to a parental balanced translocation between chromosomes 7 and 14. Clinical features observed in the proband were consistent with the consensus phenotype of partial trisomy 7q22 → qter reported in the scientific literature. Early diagnosis of these patients using molecular cytogenetic techniques is important for establishing the precise diagnosis and for making decisions pertaining to the prognostication and management of affected individuals.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 7/genetics , Maternal Inheritance/genetics , Translocation, Genetic , Trisomy/genetics , Adult , Child, Preschool , Female , Humans , Infant , Male , Pregnancy
4.
Int J Dev Neurosci ; 15(4-5): 631-43, 1997 Jul.
Article in English | MEDLINE | ID: mdl-9263039

ABSTRACT

Following destruction of sensory cells of the organ of Corti, spiral ganglion cells (SGC) in the guinea pig degenerate. Chronic electrical stimulation via cochlear prostheses can enhance their survival, with the effect blocked by stopping the electrically elicited action potentials with tetrodotoxin. Blocking action potentials in the normal hearing ear with tetrodotoxin, however, does not cause degeneration. This suggests that in the pathological ear VIII N activity acts as a survival factor, while in the normal ear there are other survival factors that maintain SGCs. We examined neurotrophins, as survival factors in the deafened ear. Two weeks of treatment with BDNF (brain derived neurotrophic factor) administered chronically via a mini-osmotic pump into scala tympani at 50 ng/ml, provided a statistically significant enhanced SGC survival over untreated deafened ears or deafened ears treated with artificial perilymph. Neurotrophin 3 provided some enhanced survival, but this was not statistically significant over untreated deafened ears. These observations suggest there are survival factors in the inner ear, including those coupled to direct activation of the auditory nerve fibers, that may serve to maintain the auditory nerve. These factors may be applied following deafness to maintain and enhance neural populations and to increase benefits to the profoundly deaf receiving cochlear implants.


Subject(s)
Hair Cells, Auditory, Inner/cytology , Nerve Growth Factors/pharmacology , Spiral Ganglion/cytology , Animals , Anti-Bacterial Agents/toxicity , Antimetabolites/pharmacology , Brain-Derived Neurotrophic Factor/pharmacology , Cell Survival/drug effects , Cochlea/cytology , Cochlea/drug effects , Deafness/chemically induced , Deafness/pathology , Guinea Pigs , Hair Cells, Auditory, Inner/drug effects , Kanamycin/toxicity , Neurotrophin 3 , Organ of Corti/cytology , Organ of Corti/drug effects , Peripheral Nervous System/cytology , Peripheral Nervous System/drug effects , Spiral Ganglion/drug effects
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