Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review

We report on a preterm neonate with a deletion of the distal long arm of chromosome 13q32.1 and partial trisomy of the short arm of chromosome 10p12.33. The patient has intrauterine growth retardation, microphthalmia, macrocephaly, holoprosencephaly, patent ductus arteriosus, aortic isthmus hypoplasia, right renal agenesis, imperforate anus, ambiguous genitalia, pleural effusion and vertebral anomaly. Analysis using an oligonucleotide microarray (U-array Cyto6000 array platform (Human Genome build: hg 18) indicated that there was a partial trisomy of chromosome 10(19.5 Mb gain) involving 298 oligonucleotides from 10pter to 10p12.33, and a partial monosomy of chromosome 13(18.3 Mb deleted) involving 313 oligonucleotides from 13q32.1 to 13qter. This is the first report of a patient with partial trisomy 10p12.33 and partial monosomy 13q32.1.     

Joubert syndrome co-existing with partial Xp trisomy: review of the literature

We report a five-year-old girl who has been clinically diagnosed as Joubert syndrome. Her cytogenetic analysis showed 46,XX,der(2)add(2q37) karyotype. Cytogenetic analysis of her mother and maternal grandmother revealed a karyogram designated as 46,X,t (X;2)(p11.2;q37). The proband's derivative chromosome was further confirmed to be a translocation chromosome 2 carrying segments from chromosome X, which originated from a segregation event of the maternal grandmother's balanced translocation passed on as a balanced translocation to the proband's mother either. So far, a number of candidate genes including EN1 on 2q were analyzed for Joubert syndrome. Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband.     

Partial trisomy 11p with interatrial septal aneurysm. Case report and literature review

A newborn female infant presented with hypotonia, joint hyperextensibility, cardiac murmur, macroglossia, and hepatosplenomegaly. Karyotype of the child revealed partial trisomy of chromosome 11p derived from a paternal balanced translocation. Echocardiogram obtained in the newborn period suggested interatrial aneurysm, which was confirmed on post-mortem examination. Interatrial septal aneurysm is a rare abnormality not previously described in partial trisomy 11p.     

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype

We describe a 4-year-old boy with various facial dysmorphic features such as downslanting palpebral fissures, ptosis, hypertelorism, broad nasal bridge, small and low-set ears, broad philtrum, and micrognathia. In addition, profound mental retardation, myopia, muscular hypotonia as well as genital and cardiovascular abnormalities are also present. Refinement of the breakpoints by cytogenetic techniques, in particular the increase of banding resolution in conventional cytogenetic analysis, has enabled the correct diagnosis, as proven by fluorescence in situ hybridisation (FISH) using whole chromosome painting and single copy probes. We were able to demonstrate an unbalanced translocation that the patient inherited from his father resulting in a submicroscopic monosomy 16p13.3 and a trisomy 2p24.2-pter.     

Neural tube defects: a review of human and animal studies on the etiology of neural tube defects

Although neural tube defects are a common congenital anomaly, their etiology is not known. Human studies have emphasized the pathology and epidemiology of the defects and suggest that in the majority of cases the etiology is multifactorial. Factors which appear possibly to be important are genetic predisposition, maternal illness, and fetal drug exposure. Animal studies have utilized naturally occurring neural tube defects and teratologically induced lesions. No animal model has been convincingly established as the equivalent of human neural tube defects. However, animal models have allowed investigation of the mechanisms of suggested human teratogens and determination of the pathogenesis of naturally occurring animal defects. Their most important contribution has been in furthering the understanding of the normal mechanisms of neural tube closure. It may be through this understanding that the etiology of human neural tube defects will be determined.     

Trisomy 7p: report of 2 patients and literature review

Two patients with a trisomy 7p are reported. Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.     

Hairy cell leukemia associated with carcinoma: report of two patients and review of the literature

The association of carcinoma and hairy cell leukemia (HCL) in two patients is recorded. One of the cases was a 58-year-old male who developed carcinoma of the kidney, while the second patient was a 48-year-old woman with carcinoma in the breast. This rare association is probably coincidental, as it is not described in most of the larger reported series of patients with HCL. It is of interest to note that the first patient had received radiation therapy thirty years before the diagnosis of HCL and carcinoma was made.     

Changes in the mouse neuroepithelium associated with cadmium-induced neural tube defects

The aim of this study was to investigate the teratogenic action of cadmium (Cd) on the developing mouse CNS. Pregnant mice were injected with 4 mg/kg CdCl2 on day 7, 8, 9, or 10 of gestation. These animals and saline injected controls were sacrificed either on the day before birth or at various times up to 48 hours after injection and the embryos examined grossly and histologically. Exencephaly occurred after Cd treatment on day 7 or 8 and its development was examined in day 8 embryos. Eight hours after Cd injection many cells of the closing neural plate contained dense-staining inclusions, thought to be autophagic vacuoles. After 24 hours this damage had almost disappeared, but the anterior neural folds, although looking histologically normal, were more open than in controls. Forty-eight hours after injection it was apparent that this part of the neural tube was not going to close and would result in exencephaly. Cd exposure on day 9 or 10 did not cause gross CNS defects such as exencephaly. On both days, twelve hours after Cd injection, similar dark-staining inclusions were seen in many cells throughout the CNS. After twenty-four hours there were variable amounts of cell death, resulting in some embryos in breakdown of parts of the wall of the neural tube. Forty-eight hours after treatment all inclusions and cellular debris had disappeared, indicating repair had taken place, but in some embryos, treated on day 9, severe lasting damage was seen as dorsal openings in the previously closed neural tube.     

A new case of partial 2p trisomy due to de novo interstitial duplication 2p21-22

We report on a case of "de novo" interstitial duplication of bands 2p21-22 in a 31-month-old female with mild mental retardation and dysmorphism. Cytogenetic investigations were performed on peripheral blood by adding 5-BrdU and 5-FdU. Measurements of enzymatic activity of malate dehydrogenase, whose gene has been mapped on the band 2p23, added reliability to the identification of bands 2p21-22 as the duplicated segment. The authors suggest that the duplication of this segment is able to cause the clinical picture of the syndrome of partial 2p trisomy.     

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.     

Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature

Partial monosomy of 22q, resulting from a de novo unbalanced translocation t(X;22)(q28;q11) was detected in a newborn female with manifestations of the DiGeorge anomaly including multiple anomalies, type I truncus arteriosus, T-cell abnormalities, thymic aplasia and parathyroid hypoplasia noted on postmortem examination. Although DiGeorge anomaly is causally heterogeneous, our patient, together with 18 previously known cases, confirm that partial monosomy of the proximal long arm of chromosome 22 is the single most common cause of this polytopic developmental field defect.     

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.     

Pheochromocytoma associated with adrenocortical adenoma: case report and literature review

The case of a 60-year-old woman with pheochromocytoma and concomitant adrenocortical adenoma in the same gland is presented. She complained of episodic headache, palpitation, nausea, vomiting and sweating. Physical examination revealed that the patient has generalized obesity, wet skin and paroxysmal hypertension, but no signs of Cushing's syndrome. Elevated levels of urinary noradrenaline, adrenaline and total metanephrine were sequentially observed. In addition, urinary 17-OHCS was also slightly elevated, but plasma cortisol was normal and suppressed after oral administration of 0.5 mg of dexamethasone. Abdominal echography and CT scanning demonstrated a left adrenal tumor, which took up both 131I-meta-iodobenzylguanidine and 75Se-scintadoren in the same region. A left adrenalectomy was performed and the tumor was found to consist of two parts, pheochromocytoma (2.5 X 2.5 X 2.5 cm) and cortical adenoma (2.5 X 3 X 5 cm). A total of 23 reported cases showing evidence of hyperfunction of the adrenal cortex and the medulla were noted. So far as we know, this patient was the second case of pheochromocytoma with adrenocortical adenoma in Japan.     

Aspergillosis report of two instances in children associated with acute leukemia and review of the pertinent literature

Summary Two examples of aspergillosis developing in children with acute leukemia are presented together with a review of the pertinent literature. The increasing incidence of aspergillosis occurring among patients with grave impairment of immunologic defense mechanisms is stressed. The value of early diagnosis is emphasized as new effective agents for the control of aspergillosis are becoming available.Supported in part by National Institutes of Health Training Grant 2E-52 Mycopathol. et Mycol. Appl. XX, 3–4.     

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication status of the PMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplication, thus providing further support for the PMP22 gene dosage mechanism for CMT1A. Received: 3 May 1995 / Revised: 1 August 1995     

De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis

In the present paper a malformed male newborn is presented with de novo 2q3 trisomy/distal 7p22 monosomy and typical clinical findings of 7p deletion syndrome including trigonocephaly.     

Biopercular syndrome: report of two cases and literature review

The anterior opercular or biopercular syndrome is a cortical pseudobulbar palsy due to bilateral lesions of the anterior brain operculum. It is characterized by preservation of reflex function and automatic activity, without mental impairment. Two cases are reported herein and the relevant literature reviewed. The first case was a 73-year-old female with a history of a stroke occurring seven years previously, without sequelae in the interim. She presented with sudden loss of consciousness. The neurological examination showed a right facial central palsy and anarthria, with reflex acts such as smiling, blinking and yawning, not elicited by commands; she also had a right hemiparesis and walking impairment. A brain CT scan showed an old ischemic infarction in the region of the right medial cerebral artery. Because the right motor involvement did not correlate with the findings of the initial CT scan, another CT scan two days later showed an acute brain infarction in the vicinity of the left medial cerebral artery. The second case was an 8-year-old girl with mental retardation and impairment of verbal development, caused by of biopercular pachygyria. Facio-pharyngo-glosso-masticatory diplegia and volitional selective palsy of the oro-facial muscles was seen in both patients. The neuropsychological assessment showed cognitive, emotional and social interaction impairment in both cases -as part of the frontal convexity syndrome in the first case and of mental retardation in the second. The two patients had difficulty in mastication and swallowing. The prognosis for recovery of verbal capacity is poor, although generally most patients recover the ability to swallow.