Biomedical subjects
Publications and source records attributed to G S Stephen.
We describe a 24-year-old woman with tetramelic ectrodactyly, mandibulo-facial dysostosis and cleft uvula. This rare association has previously been reported in two families, but with ectrodactyly affecting only the feet. We propose the new term ectrodactyly-mandibulo-facial dysostosis for this entity.
A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infants have been described recently with features of Fryns' syndrome and various aneuploidies. It is suggested that amplified developmental instability of the midline developmental field may account for some of the phenotypic resemblances between these cases.
A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in childhood with subsequent dyspepsia. The dysmorphic features did not become evident until later childhood, supporting the view that karyotyping should be performed routinely in all children with developmental delay.
A case of mosaicism involving structural abnormality of chromosome 18 found in cultured amniotic fluid is reported.
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A retrospective cytogenetic study was carried out on the parents of children with regular trisomy 21 Down's syndrome. In a total of 128 parents referred routinely to our laboratory after the birth of their affected child, three structural abnormalities, a reciprocal translocation and two pericentric inversions not involving chromosome 21, were detected. This is about 10 times the frequency expected based on current figures from consecutive newborn studies. In addition, the brother of one of nine older people with trisomy 21 referred for cytogenetic analysis for the first time was found to have a reciprocal translocation. This supports the contention made by others that an interchromosomal effect does exist in man. It is suggested that centres who routinely analyse the parents of their trisomy 21 referrals in an unbiased fashion should review their records. They will almost certainly contain useful information regarding the possible existence of this phenomenon and may even contain clues as to its nature. In addition to its undoubted scientific value, such data should prove useful in the genetic counselling of carriers of structural rearrangements.
The case is presented of a 64-year-old man who has had recurrent psychiatric symptoms over several years, and now has minor evidence of a myeloproliferative disorder. He had a buccal carcinoma successfully treated 33 years previously, thus, the possibility of bone marrow infiltration has been excluded. An acquired translocation that was found in his bone marrow cells has not been previously reported in association with any neoplasm. The possible significance of the translocation to this patient is discussed.
A family is described in which the proband has a rearranged X chromosome involving monosomy Xp and trisomy Xq, while the mother has a paracentric inversion of chromosome 7. It is suggested that the phenomenon of interchromosomal effect may link these observations. A brief review of the published and computer catalogued data on paracentric inversion in man is included.
A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.
As far as the authors are aware this is the first report of the insertion of an active NOR into a non-acrocentric chromosome, although a simple translocation involving an active NOR has been previously recorded. More specifically, this case involves the non-reciprocal translocation of the centromere and stalk of an acrocentric into 12p, generating an apparently stable dicentric chromosome. The insertion is seen in three generations and may be relatively genetically benign. The abnormality is fully described by G and sequential C banding, DA/DAPI fluorescence, kinetochore staining, and Ag-NOR staining, and the findings are discussed in the light of the limited published reports of insertion in man.
A case of a myeloproliferative disorder classified as preleukemia is described in which the patient developed a single, complicated, abnormal karyotype in 100% of the bone marrow cells (45, XY, -2, -5, -7, -8, -11, -12, -13, -14, + t(2;5), +t(11;12), +t(16;17), +17, plus three or four dicentric markers). The possible significance of these unusual, if not unique, chromosome changes is discussed in relation to hematologic and clinical findings and with particular reference to the existing nonrandom patterns of chromosome changes in myeloproliferative disorders and acute nonlymphoblastic leukemias.
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A familial pericentric inversion of chromosome 19 was detected prenatally in a young primagravida. As far as the authors are aware there are no previous published reports of this rare abnormality being ascertained in this manner. The problems of counselling such a family are considered.
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