Partial trisomy 8q and partial monosomy 18p: a case report

We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient.     

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p

Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients.     

Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture

A case of twin boy with partial trisomy for the distal part of the long arm of chromosome 10 (10q24-->qter) and a concomitant monosomy 14(q32-->qter) is reported. The chromosomal abnormalities resulted from a paternal balanced translocation involving chromosomes 10 and 14. An additional clinical feature was observed, viz. hypoplastic lungs. The proband's phenotype was compared to previously reported patients with partial trisomy 10q or 14q deletion.     

Clinical and molecular cytogenetic analysis of a rare case of mosaicism for partial monosomy 3p and partial trisomy 10q in human

The results of comprehensive clinical examination and molecular cytogenetic analysis of a patient carrying chromosome 3p+ in 69% of the peripheral blood lymphocytes are presented. Using microdissection of the metaphase chromosomes followed by DOP-PCR, a DNA library specific for the abnormal chromosome was obtained. By fluorescence in situ hybridization (FISH) of this DNA library with chromosomes from the patient and a healthy donor, the aberrant chromosome was identified as der(3)t(3;10)(3p25;q24.3). Since this chromosome was present in only a proportion of patient's cells studied and no chromosome aberrations were revealed in cells of his parents, the der(3)t(3;10) is suggested to appear de novo. The cells carrying der(3)t(3;10) are monosomic for a proportion of 3p25 and trisomic for 10q24.3-->qter. The developmental malformations revealed in the patient, such as the specific features of facial skeleton, mental retardation, microcephaly, and others are similar to those described previously in patients with partial 3p monosomy and 10q trisomy.     

Partial proximal trisomy 10q syndrome: a new case

We report a case of partial proximal trisomy of the long arm of chromosome 10 confirmed by fluorescence in situ hibridization (FISH) performed with whole chromosome 10 specific painting and specific yac clones. The phenotypic findings, compared to those found in other published cases with the same karyotype, support the recognition of a distinctive partial proximal trisomy 10q syndrome (10q11-->q22).     

Partial trisomy 17q and monosomy 9p due to a familial translocation.

Described is an infant with partial trisomy 17q and monosomy 9p [46,XX,-9,+der(9)t(9;17)(p21;q23)] due to adjacent-1 segregation of a maternal balanced reciprocal translocation. Characteristic clinical features of both partial 17q trisomy and monosomy 9p are present, but the former syndrome is less recognisable in this infant than in previously reported cases due to the concomitant 9p monosomy.     

Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.

A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21----pter). She showed minimal dysmorphic features, agenesis of the corpus callosum and moderate developmental delay. There is no previous report of mosaicism for partial monosomy and partial trisomy 8p. The clinical findings in the presently described patient are less severe than those reported in cases with only monosomy or trisomy of the distal part of chromosome 8.     

Partial trisomy 10q

Summary Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases; the clinical data justify the conclusion that cases with trisomy 10q show a specific syndrome of mental retardation and malformation characterized by psychomotor retardation, growth retardation, hypotonia, high forehead, flat face, fine and arched eyebrows, antimongoloid slant of the eyes, narrow palpebral fissures, hypertelorism, short nose, bowshaped mouth, short neck, (kypho)scoliosis, and in some cases microcephaly.     

Partial trisomy 4q syndrome: Case report and review

Summary In the course of chromosome studies of atomic bomb survivors in Hiroshima using the trypsin-G-banding and Q-banding methods, a 40-year-old male was found to have an abnormal banding pattern in the long arm of a chromosome 7, although no such abnormality was detected by ordinary staining method. Since all other chromosomes apparently had normal banding patterns, the abnormality was determined to be a paracentric inversion of a chromosome 7, which is described as 46,XY,inv(7)(q22q31). This is the first demonstration of a possible paracentric inversion in man.     

De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation

Anorectal malformations (ARM) encompass a broad clinical spectrum which ranges from mild anal stenosis to severe anorectal anomalies such as complex cloacal malformations. The overall incidence of ARM is around 1 in every 2,500 live births. Although causative genes for a few syndromic forms have been identified, the molecular genetic background of most ARM remains unknown. The present report describes a patient with a de novo 13.2-Mb deletion of chromosome 18q22.3-qter and a 2.2-Mb de novo duplication of chromosomal region 18pter-p11.32 located at the telomeric end of chromosome 18q. The patient presented with ARM and the typical features of 18q- syndrome (De-Grouchy syndrome). The combination of a partial duplication of the short arm and a partial deletion of the long arm of chromosome 18 has been described in 16 previous cases. However, this is the first report of an association between this complex chromosomal rearrangement and ARM.     

Partial trisomy 7q and probable partial monosomy of 5p in the son of a mother with a reciprocal translocation between 5p and 7q

Summary An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, broad thumbs, clenched fingers 3–5 on the right hand, simian creases, a congenital heart defect, internal hydrocephalus, and bilateral hydronephrosis. He died on day 26 of his life. Chromosome examination disclosed a maternally inherited reciprocal translocation between 5p and 7q, resulting most probably in monosomy of 5q15 and trisomy of 7q32qter (46,XY, der (5), t(5;7)(p15;q32)mat).     

Phenotypic and molecular characterization of partial trisomy 2q resulting from insertion-duplication in chromosome 18q: a case report and review of literature

Trisomy 2q is a well-documented chromosomal anomaly with considerable variation in the phenotype depending upon the breakpoints and the co-existing chromosomal aberrations. The case of a dysmorphic male infant found to have trisomy of the 2q31.1-q37.3 segment, resulting from insertion-duplication of this segment in chromosome 18q23 is reported here. The rearrangement was resolved in detail by cytogenetic microarray and whole chromosome paint-based fluorescence in situ hybridization studies. There is some overlap of the phenotypic features in the reported patient with those described in previously reported cases with partial trisomy 2q. A detailed review of the available literature on 2q trisomy has also been presented and delineation of the phenotypic characteristics common to all patients with 2q trisomy has been attempted.     

Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings

Terminal 7q duplication and terminal 13q deletion are two conditions with variable phenotypes including microcephaly, thumb a-/hypoplasia, cortical dysplasia, microphtalmia, intellectual disability and dysmorphic features. We describe a boy born to a mother with a reciprocal t (7;13) who combines both a terminal 7q33-qter duplication and terminal 13q33-qter deletion through the inheritance of a derivative chromosome 13 (der (13)). The patient presented with developmental delay, facial and non-facial dysmorphic features, hypertonia, genital abnormality and skeletal malformation but no thumb a-/hypoplasia or microphtalmia. Knowing the exact breakpoints of his chromosomal aberrations using high resolution array CGH (aCGH) and comparison of his phenotypes with those of 24 and 59 previously published cases of 7q duplication and 13q deletion, respectively, allow us to further narrow the size of the proposed critical regions for microcephaly, thumb a-/hypoplasia and hypo/hypertonia on chromosome 13.     

Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report

We report a female infant with partial trisomy 8p (8p11.2-->pter) and deletion of 13q (13q32-->qter). She was born with mild hypotonia, intrauterine growth retardation, microcephaly, micrognathia, large low set ears, pectus excavatum, anteriorly placed anus, and bilateral clinodactyly. Echocardiography showed left ventricular hypertrophy, bicuspid aortic valve, dilatation of the aorta and pulmonary artery, and prolapse of atrio-venticular valve leaflets. Cytogenetic investigation of her sister and her father showed that the altered region resulted from a balanced translocation between the part of the long arm of chromosome 13 and short arm of chromosome 8. In partial trisomy 8p, the clinical picture of the patients comprises hypotonia, structural brain abnormalities, facial anomalies including a large mouth with a thin upper lip, a high arched palate, a broad nasal bridge, an abnormal maxilla or mandible, malformed, low set ears, and orthopedic anomalies. Although patients with proximal deletions of 13q that do not extend into band q32 have mild to moderate mental and growth delays with variable minor anomalies, patients with more distal deletions including at least part of band q32 usually have major malformations such as retinoblastoma, mental-motor growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. To our knowledge partial trisomy 8p and partial monosomy of 13q have not been reported previously in the same person.     

Partial monosomy 10p syndrome

A newborn infant with monosomy 10p13 is reported. The clinical signs and symptoms of the present case are compared with those of previously described cases. Although there is no pathognomonic feature, a characteristic monosomy 10p syndrome is recognizable.     

Partial monosomy 11q and trisomy 12q: variable expression in two siblings

Clinical and cytogenetical findings are reported and discussed on two siblings with discordant phenotypes despite having both a terminal 11q deletion and a distal 12q duplication resulting from an unbalanced segregation of a balanced translocation t(11:12)(q23:q24.1) mat. The oldest child, a girl, is the index patient. Her clinical features include intrauterine and postnatal growth retardation, fetal distress, mild hypotonia, early feeding difficulties, moderate developmental delay, especially in language acquisition, a velopharyngeal insufficiency with repeated otorhinopharyngeal infections, facial dysmorphism, heart ventricular septal defect, and abnormal hyperactive behaviour with sometimes autistic tendencies. The facial dysmorphic features notably consist of microcephaly, hypertelorism, large palpebral fissures, large eyes with alternant divergent strabismus, long eyelashes, a long and broad nasal bridge, a short "crested" nose with salient tip, a fishmouth with large spaces between teeth and flat palate, retrognathism, large ears and multiple dimples. The second affected child is a boy showing low birthweight, moderate developmental retardation with mainly no active language at 32 months, behaviour abnormalities with an autistic tendency, and no major physical anomalies apart from a slight facial hypotonia with often open mouth, dimples on the shoulders and right cryptorchidism. The authors stress the variable clinical expression of the chromosomal imbalance in this family resulting in low birthweight, developmental delay, abnormal behaviour, but different degrees of physical features and dysmorphism. The possible contribution of each of the two aneusomies to the phenotype is discussed.     

An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature

We report a male patient with a karyotype of 46,XY, der(4)t(1;4)(q42.1;q35.1) inherited from a maternal balanced translocation involving chromosome 1q and 4q. The boy had corpus callosum dysgenesis, laryngomalacia, tracheobronchus, facial dysmorphism, simian creases, and developmental retardation. The first three features are unique compared to previous literature reports on distal partial trisomy 1q. This case report allows a further delineation of the distal partial trisomy 1q syndrome.     

Precocious puberty associated with partial trisomy 18q and monosomy 11q

We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,der(11)t(11;18)(q24;q13). To the best of our knowledge, this is the first report of precocious puberty associated with either dup(18q) or del(11q) syndromes.