Novikova IV, Lazarevich AA, Egorova TM
… +5 more, Solovyeva IV, Golovataja EI, Plevako TA, Mikheeva NG, Lurie IW
Genet Couns
· 2014 · PMID 24783651
We report a fetus with del(6)(q21q23) who had tetralogy of Fallot and ectrodactyly of the right hand. Analysis of the literature showed that both these defects were reported in several patients with similar deletions. Th...We report a fetus with del(6)(q21q23) who had tetralogy of Fallot and ectrodactyly of the right hand. Analysis of the literature showed that both these defects were reported in several patients with similar deletions. The minimal segment responsible for ectrodactyly may be limited to 7.35 Mb (106.650.000-114.600.000). However 1) significant number of patients with this deletion but without ectrodactyly or other defects of extremities, and 2) wide range of unusual birth defects in some persons with deletions of the critical segment allow to propose involvement of regulatory element(s) necessary for the occurrence of ectrodactyly in patients with del 6q21.
Trichorhinophalangeal syndrome type I [OMIM #190350] is an autosomal dominant disorder. Common features are: Slowly growing sparse hair, laterally thin eyebrows, bulbous tip of the nose, long philtrum, thin upper lip, pr...Trichorhinophalangeal syndrome type I [OMIM #190350] is an autosomal dominant disorder. Common features are: Slowly growing sparse hair, laterally thin eyebrows, bulbous tip of the nose, long philtrum, thin upper lip, protruding ears. Common skeletal anomalies include shortening of phalanges and metacarpals causing mild to severe brachydactyly, cone shaped epiphyses, hip dysplasia and short stature. Recently many reports have been published on the use of assisted reproductive technology (ART) and the increased risk of congenital major malformations or syndromes. We present a 6 years old Turkish Trichorhinophalangeal syndrome (TRPS) case of a twin pair after in vitro fertilization (IVF). TRPS with IVF pregnancy has not been reported previously. This new case reported herein will contribute to a better understanding whether ART pregnancy increases congenital malformations.
Dinlen N, Zenciroğlu A, Dilli D
… +3 more, Aydin B, Beken S, Okumuş N
Genet Couns
· 2014 · PMID 24783649
Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently a...Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.
Topcu V, Ilgin-Ruhi H, Yurur-Kutlay N
… +3 more, Ekici C, Vicdan A, Tukun FA
Genet Couns
· 2014 · PMID 24783648
Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat: Partial trisomy 4q is a rare chromosomal abnormality and mostly results from unbalanced inheritance of balanced parental chromosomal tra...Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat: Partial trisomy 4q is a rare chromosomal abnormality and mostly results from unbalanced inheritance of balanced parental chromosomal translocations. Here, we present a 5-year-old boy with partial trisomy 4q who exhibited distinctive features of 'pure' partial trisomy 4q syndrome including moderate mental and growth retardation, microcephaly, peculiar face appearance, tooth anomaly, cleft palate, language handicap, preaxial polydactyly, and urogenital anomaly. Karyotype analysis of the child revealed der(9)ins(9;4)(q34.3;q26q35.2) inherited from mother carrying ins(9;4)(q34.3;q26q35.2) resulting in trisomy of the 4q26qter segment. Whole chromosome painting, locus specific, and subtelomeric FISH analysis in mother proved that q26qter of the chromosome 4 segment was directly inserted into the telomeric sequence in chromosome 9, and depending on nature of the rearrangement in mother, karyotype of the child was determined to be pure partial 4q trisomy. This is the first report of this kind of rearrangement causing pure partial trisomy 4q with accompanying white matter change demonstrated by MRI and bilateral preaxial polydactyly of both hands.
Eid MM, El-Bassyouni HT, Eid OM
… +4 more, Hamad SA, Elgerzawy A, Zaki MS, El-Ruby M
Genet Couns
· 2013 · PMID 24551985
Ring chromosome 15 is a rare disorder, with less than 50 cases reported in the literature to date. We report the clinical and cytogenetic evaluation of a patient with ring chromosome 15. Diagnostic tests including echoca...Ring chromosome 15 is a rare disorder, with less than 50 cases reported in the literature to date. We report the clinical and cytogenetic evaluation of a patient with ring chromosome 15. Diagnostic tests including echocardiography, abdominal ultrasound, brain computerized tomography (CT), magnetic resonance imaging (MRI) and electroencephalogram (EEG) were done. Clinical examination of the patient revealed the characteristic features of ring chromosome 15, such as growth retardation, hypertelorism, frontal bossing, a highly arched palate, small hands and feet and café-au-lait spots. In addition, the patient presented with a mild intellectual disability, a congenital atrial septal heart defect, and abnormal EEG records. We also report 2 novel findings, which to our knowledge; have not been reported before in ring chromosome 15 patients: large areas of hyperpigmentation on the front of both legs and feet and hypogenesis of the corpus callosum. Cytogenetic studies using both conventional G-banding and fluorescence in situ hybridization (FISH) with a Sub Tel 15q probe confirmed the diagnosis of ring chromosome 15.
This review critically examines the findings which characterize the dysmorphic, radiologic and behavioral phenotype of Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) and has an historical perspective on it. MOP...This review critically examines the findings which characterize the dysmorphic, radiologic and behavioral phenotype of Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) and has an historical perspective on it. MOPD is a group of primordial dwarfism syndromes with prenatal onset growth retardation, a typical craniofacial appearance and behavioral phenotype. In 1959, Mann and Russell have described the first case in a detailed report, and named "microcephalic midget of extreme type". In their report; based on historical records and a small painting, they pointed "Mademoiselle Crachami" as the oldest known case.
Neonates are hospitalized in the neonatal intensive care unit for complications arising during delivery or for the treatment of congenital anomalies. Some anomalies may warrant chromosomal analysis. We investigated all c...Neonates are hospitalized in the neonatal intensive care unit for complications arising during delivery or for the treatment of congenital anomalies. Some anomalies may warrant chromosomal analysis. We investigated all cases of neonates hospitalized in the NICU at Dokkyo Medical University Hospital between January 1990 and May 2011. Over the study period of 21 years and 5 months, 169 of 6,159 neonates (2.74%) were diagnosed with chromosomal abnormalities. Autosomal chromosomal aberrations were observed in 165 neonates (2.68%), and sex chromosome abnormalities in only 4 neonates (0.07%). Compared with previous studies, we found a much lower prevalence of sex chromosome abnormalities, despite a similar overall prevalence of chromosomal abnormalities. This seems to be due to the fact that sex chromosome abnormalities are likely to be clinically invisible in the NICU.
Tuysuz G, Ozdemir N, Sonmez E
… +2 more, Kannengiesser C, Celkan T
Genet Couns
· 2013 · PMID 24551982
Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a n...Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare disorder with an autosomal dominant trait. The disease is defined with early onset cataract and hyperferritinemia without iron overload. Here, we report a new family with three affected members of this syndrome where the proband presented with high ferritin levels. Patients with unexplained high ferritin levels and/or juvenile onset cataract must be evaluated carefully for hereditary hyperferritinemia cataract syndrome.
Say B, Guzoglu N, Uras N
… +3 more, Candemir Z, Akin I, Dilmen U
Genet Couns
· 2013 · PMID 24551981
Su Partial trisomy 3p and partial monosomy 11q are rare chromosomal disorders with a deletion of part of chromosome 11 combined with a duplication of part of chromosome 3. These are usually inherited from a parent who ca...Su Partial trisomy 3p and partial monosomy 11q are rare chromosomal disorders with a deletion of part of chromosome 11 combined with a duplication of part of chromosome 3. These are usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child. In this paper, we report a newborn who has dysmorphic facial features, double outlet right ventricle, hypotonia, hypospadias, neonatal thrombocytopenia, hydroureteronephrosis, talipes equinovarus and septum pellucidum et vergae. Cytogenetic investigation revealed 46,XY,der(11)t(3;11)(p22.2;q23.3) and the karyotype of his father showed a balanced translocation, 46XY,t(3;11)(p22.2;p23.3).
Duplication of 3q is an extremely rare disorder characterized by "intellectual disability, deficiency of growth, broad nasal root and hypertrichosis". Although it is generally accepted that the duplication of the 3q25-qt...Duplication of 3q is an extremely rare disorder characterized by "intellectual disability, deficiency of growth, broad nasal root and hypertrichosis". Although it is generally accepted that the duplication of the 3q25-qter region corresponds with a characteristic face, there is a debate about the critical region. In this report, we present a case with dup(3q) syndrome with 46,XY,der(7)ins(7;3)(p13; q22.1q26.31) karyotype and discuss the clinical findings.
Focal fibrocartilaginous dysplasia (FFCD) is an uncommon, benign bone lesion that causes angular deformities of the long bones in young children. Most deformities were seen around the knee. Diagnostic criteria are based...Focal fibrocartilaginous dysplasia (FFCD) is an uncommon, benign bone lesion that causes angular deformities of the long bones in young children. Most deformities were seen around the knee. Diagnostic criteria are based on clinical and radiological signs: unilateral angular deformity in a long bone of a young child, associated with on X-ray a typical lucent bony defect with surrounding sclerosis at the concavity of the deformity with a cortical defect. The etiology is not understood. There were 16 cases described previously involving the upper extremity: 9 cases with FFCD of the ulna, 3 of the humerus, 2 of the radius and 2 of the phalanx. We report a case of cubitus varus deformity in a young girl of 2 years and 2 months where the deformity worsened very quickly. We believe that debridement of the fibrous tether at very young age will prevent further deformity and can correct spontaneously by remaining growth.
Mesens T, Witters I, Van Robaeys J
… +2 more, Peeters H, Fryns JP
Genet Couns
· 2013 · PMID 24551978
Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks. Autopsy findings are suggestive for Fraser syn...Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks. Autopsy findings are suggestive for Fraser syndrome (cryptophthalmos-syndactyly syndrome; OMIM 219000). The diagnosis was confirmed by mutation analysis of FRAS1.