A case of 21q-syndrome with normal SOD-1 activity

Summary A female infant with del(21)(pterq22.1-2:) constitution identified by G, Q, and R banding is reported. She had marked mental and physical retardation, generalized hypertonia, microphthalmia with persistent hypoplastic primary vitreous, blepharochalasia, high nasal bridge, micrognathia, malformed ears with preauricular pits, and overlying fingers. The assay for superoxide dismutase-1 (SOD-1) activity in the patient revealed a normal value and it was suggested that the gene locus for SOD-1 in 21q22.2qter is not compatible with the presence of the gene dosage effect in the monosomic state.     

A case of 21q-syndrome with half normal SOD-1 activity

A male Japanese infant was found to have a chromosomal aberration of del(21)(qter leads to q22.1-2) and decreased superoxide dismutase (SOD) activity in erythrocytes and polymorphonuclear and mononuclear leukocytes. The cuprozinc enzyme (SOD-1) level was 40-50% of normal, while the cyanide-insensitive manganese enzyme (SOD-2) activity was within the normal range. Determination of SOD activity in blood cells is a valuable method of classification of the syndrome.     

The phenotype of patients with 4q-syndrome

The 4q-syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Here we review the phenotypical characteristics of 101 literature cases and delineate this evolving deletion syndrome further. The most common anomalies observed in these patients were craniofacial (99%), digital (88%), skeletal (54%) and cardiac (50%). Nearly all of the surviving probands were delayed in their neurodevelopment and approximately two third of the study group showed ante- or postnatal growth deficiency. The overall mortality was twenty eight percent.     

A case of the 18p—Syndrome

Summary Some patients with 18p—syndrome are very severely affected with malformations, whereas others are relatively midly affected. This is a report of a relatively mildly affected case.     

Children with 4q-syndrome: the parents' perspective

A questionnaire survey was conducted among the parents of 32 not previously described children with 4q-syndrome, and 4 affected adult relatives. The questions related to the medical condition of the individual child and the interactions between parents and health professionals. The response rate of the survey was 58 %, and the mean age of the patients was 11.2 years. Thirty eight percent of children were diagnosed within the 1st month of life. Most parents felt severely distressed at the time of diagnosis and 66 % complained about a lack of medical information made available to them. However, parental understanding of the genetic aetiology responsible for the 4q-syndrome was overall good. Apart from a multidisciplinary team of healthcare workers, the internet and religion were named as sources of support. In all, 86 % of parents valued the experience of having a child with 4q-syndrome highly despite the difficulties involved.     

A case of trisomy 18 mosaicism with peculiar features

Summary A new case of 46XX/47XX 18+mosaicism is presented and the clinical findings of this type of mosaicism are discussed with particular emphasis on congenital asymmetry and elevation of sweat chlorides.

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Zusammenfassung Chromosomale Mosaiken 46/47, 18+sind sehr selten; nur acht solche Fälle sind bisher beobachtet worden. Ein neunter Fall wird in der vorliegenden Arbeit beschrieben. Die Symptomatologie dieser Chromosomenanomalie — derjenigen der Trisomie 18 sehr ähnlich — wird besprochen, wobei besonders darauf hingewiesen wird, daß der Patient leicht erhöhte Chloride im Schweiß und eine auffallende Körperasymmetrie aufwies. Körperasymmetrien sind schon mehrfach bei 46/47, 18+Mosaik beobachtet worden. Eine kausale Beziehung zwischen dieser Chromosomenanomalie und der Körperasymmetrie wird diskutiert.

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Supplemented by a fellowship of NATO (Dr. L. Pavone) and a Special Project Budget MR 12, HEW, Children's Bureau, Clinical Research in Mental Retardation and Genetic Study.     

A rare case of monosomy 18p: translocation between chromosomes 18 and 21

A rare case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation is presented. An 8-year-old gril with mental deficiency and growth deficiency was the child of a 45-year-old healthy mother and 50-year-old nonconsanguineous father with unremarkable prenatal history. She had a round face, flat nasal bridge, micrognathia and hypotonia. Cytogenetic studies revealed de novo 45,XX,del(18)t(18;21) karyotype, which was confirmed by fluorescence in situ hybridization (FISH).     

A neonatal case of left ventricular noncompaction associated with trisomy 18

A neonatal case of left ventricular non-compaction associated with trisomy 18: Left ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy and exact etiology is still unknown. Trisomy 18 is the second most common autosomal trisomy in live-born infants. LVNC has been described in association with other dysmorphic features, association with trisomy 18 has not been reported previously in a neonate. LVNC broadens the cardiac anomalies associated with trisomy 18.     

Merkel cell carcinoma and 18FDG PET-CT: A case report

Merkel cell carcinoma (MCC) is a neuroendocrine skin tumor with an unpredictable evolution and high metastatic potential. It usually occurs in the elderly people with long-term sun exposure or weak immune systems. The avidity of MCCs for 18F-flourodeoxyglucose justifies the use of positron emission tomography for its staging.