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PubMed1983

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients.

Abnormalities, Multiple↗
PubMed1984

Fourth International Workshop on Chromosomes in Leukemia 1982: Abnormalities of chromosome 7 resulting in monosomy 7 or in deletion of the long arm (7q-): review of translocations, breakpoints, and associated abnormalities.

In summary, of 64 patients with total or partial monosomy 7, 21 cases showed a deletion of 7q, and a translocation resulting in loss of the whole or major portion of 7q was detected in six other cases; a consistent translocation involving chromosomes #7 and #17 was observed in four of the latter cases, resulting in an effective loss of 7q. In 23 of these 27 patients reviewed with loss of 7q, the common segment deleted involved 7q32 to 7q34 (Table). The most common abnormalities associated with -7 or 7q- were -5 or 5q- (26 cases) and monosomy 17 (16 cases); except for two patients, all of the latter also had -5 or 5q-. Fifteen of the 64 patients with -7 or 7q- had a secondary leukemia (23.4%). Other abnormalities, such as complete and partial trisomy 7 and various balanced translocations involving #7, were far less common. Only one of 16 cases had an associated 5q- chromosome, one was -17, and only one case had secondary leukemia.

Acute Disease↗
PubMed1981

Monosomy 7 in childhood: a myeloproliferative disorder.

Between 1976 and 1979 a myeloproliferative disease associated with cells monosomic for chromosome number 7 in the bone marrow was seen in six boys aged 5 1/2 months to 8 years (median 10 months). Presenting features included hepatosplenomegaly (5/6), respiratory infections (4/6), pallor (2/6) and skin infections (1/6). Haematological features included a leucoerythroblastic anaemia with leucocytosis and thrombocytopenia, and a hyperplastic marrow with a slight excess of blasts. Fetal haemoglobin was normal in four patients and mildly raised in the other two. Neutrophil function tests showed defective chemotaxis with reduced killing, despite a normal NBT test. Cytogenetic analysis of the marrow showed a preponderance of cells with monosomy 7; the blood lymphocytes were cytogenetically normal. In three patients the disease progressed to acute myeloid leukaemia (AML) after 3 weeks to 23 months; the only patient who remitted did so in response to 6-mercaptopurine and prednisolone, but relapsed 16 months later. A fourth child developed massive splenomegaly which initially responded to 6-mercaptopurine and prednisolone, but progressed to myelofibrosis 11 months later. A fifth child died from anaemia and respiratory infection without progression to leukaemia and the sixth patient has not yet developed leukaemia. Monosomy 7 is the diagnostic criterion of one of the more common myeloproliferative states in childhood and carries a high risk of progression to AML. The acute phase is usually resistant to chemotherapy, but even in responsive cases treatment does not result in elimination of the abnormal clone. Allogeneic bone marrow transplantation should be considered in cases with a suitable donor.

Child↗
PubMed1982

A chronic myeloproliferative disorder associated with monosomy 7 in the bone marrow cells; normal karyotype in acute transformation.

A chronic myeloproliferative disorder associated with monosomy 7 of the bone marrow cells is described in a male infant. After nearly 4 years, during which time no drug therapy was given, the disease transformed to a 'blast crisis' and at this stage the karyotypes of the marrow and unstimulated blood cells were shown to be normal. It is proposed that the development of the myeloproliferative disorder associated with monosomy 7 is a multistage process and the acquisition of the chromosomal abnormality is a secondary event.

Bone Marrow↗
PubMed1979

Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome.

A girl with a complex rearrangement of chromosome 9 is reported. She shows the characteristic clinical features of monosomy 9p syndrome. The rearrangement was apparently preceded by four breaks which resulted in a presumptive tiny deletion of the distal end of the short arm, inversion of the rest of this arm and a proven deletion of the secondary constriction region of the long arm. By means of C-banding, it was possible to demonstrate the paternal origin of the rearranged chromosome 9. Finally, it is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p24.

Aneuploidy↗
PubMed1983

Monosomy 21 syndrome: further delineation including clinical, neuropathological, cytogenetic and biochemical studies.

Only six cases of living newborns with apparently complete monosomy 21 have been reported. All the previous cases with the exception of the present case died between 3 weeks and 20 months. Only one of these cases had a postmortem examination. The subject of this report was previously described at the age of 6 years (Davis et al. 1976). He survived until 11 years old and is the oldest known case of complete monosomy 21. We report here the clinical presentation over 11 years, results of gene dosage studies, cytogenetic analysis, and the neuropathological postmortem examination.

Aneuploidy↗
PubMed1984

Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5 (p151q333).

A family is described in which the mother's 9 pregnancies ended in the birth of 2 healthy girls, 4 spontaneous abortions and 3 infants with multiple congenital malformations as bird-headed appearance, pre- and postnatal growth deficiency, microcephaly, micrognathia with small mouth and cat-like cry. Two of the three affected sibs had complex cardiac malformations incompatible with life; the third had a bicuspid aortic valve. Chromosomal investigation revealed an abnormal karyotype: 46,XX,rec(5),dupq,inv(5)(p151q333)pat, leading to a partial monosomy 5p and partial trisomy 5q. A large pericentric inversion of chromosome 5 was found in the father: 46,XY,inv(5)(p151q333) as well as in the firstborn healthy female sib. The clinical features partly fit the partial monosomy 5p as well as the partial trisomy 5q syndrome.

Adult↗
PubMed1975

Monosomy 7 in two adult patients with acute myeloblastic leukaemia.

Two patients with acute myeloblastic leujaemia were found to have a population of bone marrow cells with C-group monosomy. Using the Quinacrine Mustard fluorescence technique the lacking chromosome was in both patients identified as a number 7. Both patients entered a complete remission. Monosomy 7 may indicate a separate entity of acute myeloblastic leukaemia associated with a comparatively favourable prognosis.

Aneuploidy↗
PubMed1986

A case of partial 5q trisomy associated with partial 7q monosomy.

A 1-year-old girl with partial 5q trisomy and partial 7q monosomy had ocular abnormalities that included bilateral blepharoptosis and Leber's congenital amaurosis. A single bright-flash electroretinogram (dark-adapted, white stimulation) disclosed subnormal bilateral responses. Her maculas showed a reddish spot surrounded by a broad, greyish retinal zone. Cytogenetic studies disclosed deletion of q22 to the terminal of chromosome 7 and partial trisomy of q31 to the terminal of chromosome 5. Because all reported patients with 5q trisomy have not had Leber's congenital amaurosis, the ocular abnormalities noted in our patient may be explained by the 7q monosomy.

Blepharoptosis↗
PubMed1983

Monosomy 22 with humoral immunodeficiency: is there an immunoglobulin chain deficit?

The cytogenetic analysis of a patient with selective deficit of IgA and decrease in IgM, IgE, and IgG is presented. Using trypsin-Giemsa banding the karyotype showed monosomy 22 (45,XX,-22). The interest of this case lies in the rarity of the illness and in the association of monosomy 22 with hypogammaglobulinaemia and selective deficit of IgA, particularly as this chromosome is known to contain genes coding for immunoglobulin chains.

Aneuploidy↗
PubMed1983

Partial monosomy of chromosome 10 short arms.

Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include mental and growth retardation, skull abnormalities, antimongoloid slant of the eyes, ear abnormalities, anteverted nostrils, abnormalities of the hands and feet, cryptorchidism in boys, and, primarily, hypoplasia or aplasia of the olfactory bulbs and olfactory tracts as well as narrow palpebral fissures or eyelid ptosis.

Child, Preschool↗
PubMed1983

Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).

A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosencephaly in monosomy 18p (10% of previously reported cases) may not be the result of the expression of a recessive mutant gene in the hemizygous state, as assumed up to now.

Abnormalities, Multiple↗
PubMed1988

Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

A three and a half year old mildly retarded boy is presented. Karyotyping showed monosomy 21 (45,XY,-21) in all 50 metaphase spreads examined from two lymphocyte cultures, and in 20% of cells examined from cultured fibroblasts; the remaining 80% of cells showed a ring 21 chromosome (46,XY,r(21)(p1q22]. Molecular studies using chromosome 21 specific DNA probes confirmed the monosomy in blood and showed that the ring 21 chromosome was paternal in origin. Parental karyotypes were normal.

Child, Preschool↗
PubMed1990

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal.

Chromosome Aberrations↗
PubMed1998

MRI findings in a patient with partial monosomy 10p.

Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a patient with documented partial monosomy 10p. The neuroradiographic abnormalities found in this patient provide a first step towards understanding the aetiology of the developmental delay and ventriculomegaly associated with this chromosomal abnormality.

Atrophy↗
PubMed1998

Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).

We report on two mentally retarded adults with an unbalanced karyotype resulting from a familial balanced translocation between chromosomes 8 and 21, t(8;21)(p21.1;q22.3). This translocation has not been reported before. Both patients had partial trisomy 8p and partial monosomy 21q. Fluorescence in situ hybridisation (FISH) was used to determine the chromosomal breakpoints more precisely. The first patient showed mild mental retardation and facial dysmorphism, slightly resembling the earlier described trisomy 8p phenotype. He did not resemble his affected niece, who was more severely retarded, had serious epilepsy, but lacked the facial dysmorphism. Comparing the data of both patients with published reports of trisomy 8p, marked differences were found between patients with an inversion duplication (inv dup) 8p, patients with partial trisomy 8p caused by an unbalanced translocation, and our patients. Inv dup(8p) causes a recognisable phenotype, whereas the phenotype of trisomy 8p resulting from a translocation is much more variable, probably because of the accompanying monosomies. However, even the same abnormal karyotype can cause different phenotypes, as our patients show. Counselling carriers of the balanced translocation in this family, a 20-25% recurrence risk for unbalanced offspring and a 25% risk for miscarriages seem appropriate.

Adult↗
PubMed1992

Infertility in human males with autosomal translocations. II. Meiotic studies in three reciprocal rearrangements, one showing tertiary monosomy in a 45-chromosome individual and his father.

The meiotic prophase behavior of three human reciprocal autosomal translocations is presented. Each translocation was ascertained among men attending an infertility clinic. Two involved chromosomes 3 and 5, with breakpoints in different places. Quadrivalents were seen in every cell. The third translocation was a rare t(11q;15q) rearrangement in a 45-chromosome individual with tertiary monosomy. The long product of the translocation was retained in the karyotype over two generations of the family, the short product having been lost. At meiotic prophase, a trivalent was seen in every cell; in 60% of the nuclei, the short arm of the trivalent was closely associated with the XY bivalent. The transmission and phenotypic effects of tertiary monosomy in man and the mouse are discussed.

Chromosome Deletion↗