Biomedical subjects
Publications and source records attributed to F Serville.
An infant was found to have a de novo complex rearrangement of one chromosome 4. Her karyotype was interpreted as 46,XX,inv del(4)(pter::p16.3::q31.2----p15.2::q31.2----qter). Clinically she showed the features of the Wolf-Hirschhorn syndrome.
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The authors report a case of type III Congenital Cystic Adenomatoid Malformation (CCAM) of the lung in a stillborn with ultrasound and pathological findings. CCAM is an unusual morphological entity and the solid pattern (type III) is the rarest. Antenatal demonstration may allow to salvage these infants by surgical removal in immediate postnatal period.
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In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder.
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Sixteen observations of the "VACTERL association" associated with hydrocephaly and acqueductal stenosis are presented. The mode of inheritance is probably autosomal dominant. Expression is variable.
Three observations of r(14) are reported. Constant features of r(14) syndrome are the following: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation, and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig heavy chain genes, is emphasized.
During the surveillance of a consecutive sample of 35.600 liveborn infants in an urban hospital, limb anomalies were specially analysed. Polydactyly (28 cases), syndactyly (14 cases) and absence deformities (20 cases) looked not rare. No specific human teratogen have been recognized but this epidemiologic study is still in progress. The effect of chronic exposure to volatile anesthesics in operating rooms is evoked in two ectrodactylies.
A teenage girl with growth and mental retardation, urinary tract and eye abnormalities was found to have an r(10)(p15q26) in blood cells. Quantitative evaluation of seven red cell enzymes including three (HK1, TGOS, PGAMA) known to be on chromosome 10, gave normal values.
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Peptidase A (PepA) activity was measured in five patients with trisomy or monosomy of the distal portion of 18q. The ratio propositus/mean parent (sum of the values of the father and mother divided by two) showed a gene dosage effect, confirming the localization of the gene in 18q23.
Five members of a kindred with type A1 brachydactyly were ascertained. The middle phalanges of the last four fingers were short, rudimentary or absent, and the proximal phalanges of the thumbs and great toes were shortened. Emergence of the brachydactyly in the children of an unaffected woman suggested the possibility of a half chromatid mutation or of a premutation. The pedigree was then consistant with autosomal dominant inheritance with complete penetrance for brachydactyly.
The EBV-induced lymphoblastoid line established from a patient carrying a duplication of the distal part of chromosome 12 short arm (12p13) retained the original partial trisomy and displayed the same triplex gene dosage effect for TPI and G3PD as found in the patient's RBC and WBC.
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An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.
A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter leads to 16::q24 leads to p16::q32 leads to qter) is reported in an infant with congenital anomalies and psychomotor retardation.
A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.