1/11. A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.We report on a boy with congenital pure red blood cell aplasia [diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/11. early diagnosis of wolf-hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.wolf-hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/11. The new wolf-hirschhorn syndrome critical region (WHSCR-2): a description of a second case.The wolf-hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures. The currently accepted WHS critical region (WHSCR) is localized between the loci D4S166 and D4S3327, where a deletion seems to generate all the clinical manifestations of the syndrome. Here we present a patient with a subtelomeric deletion of 4p16.3 showing growth and psychomotor delay with a typical WHS facial appearance and two episodes of seizures in conjunction with fever. The high-resolution G-banded karyotype was normal. fluorescence in situ hybridization (FISH) with a set of cosmids from 4p16.3, showed that the deletion in this patient was from the D4S3327 to the telomere, enabling the size of the deletion to be estimated as 1.9 Mb, excluding the accepted WHSCR deletion. This patient supports the recent proposal by Zollino et al. [2003] that the critical region for WHS is located distally to the WHSCR between the loci D4S3327 and D4S98-D4S16, and it is called "WHSCR-2" [Zollino et al., 2003].- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/11. Distal 4p microdeletion in a case of wolf-hirschhorn syndrome with congenital diaphragmatic hernia.BACKGROUND: wolf-hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. CASE: A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. CONCLUSIONS: Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/11. A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/11. Emerging phenotype of duplication (7p): a report of three cases and review of the literature.Here we report on three patients with dup (7p) and review the previously published 17 cases. Characteristic manifestations include severe/profound psychomotor retardation, dolichocephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low-set ears, micrognathia, choanal atresia/stenosis, hyperextensible joints subject to dislocation, joint contractures, and a high rate of cardiac septal defects. Our analysis suggests that dup(7p) is associated with a recognizable characteristic phenotype.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/11. Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome?We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/11. trisomy for the distal third of the long arm of chromosome 19 in brother and sister.trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of the eyes, hypertelorism, ptosis, short nose, short philtrum, poorly formed ears, short neck with excess skin, barrel-shaped thorax, diastasis of rectus muscles, kyphosis, sacral dimple, excess of digital arches, pedes valgi, laterally curved big toes, epilepsy and muscular hypotonia. The chromosomal anomaly was transmitted by the mother, who is the carrier of a translocation t(19;20)(19q133;20pter). In the pedigree, extending over four generations, among 30 pregnancies fathered or mothered by 5 carriers resulted in: 6 individuals with normal karyotype, 9 carriers, 2 confirmed and 2 presumptive unbalanced abnormal children, and 10 abortions.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/11. Two cases of ring chromosome 13. chromosome banding patterns and mosaic configuration.Two ring chromosomes 13 were studied by means of various cytogenetic techniques in two psychomotorically retarded male infants. Common features of our patients include microcephalia, hypertelorism, wide and prominent nose bridge, and cryptorchism. Various configurations of the aberrant chromosomes could be identified in cultured skin fibroblasts and peripheral lymphocytes from both patients. Chromosome heteromorphisms and analysis of silver stained nucleolus organizer regions (Ag-NOR) substantiated the parental origin of the ring chromosomes. The more severely affected patient showed a break point at band 13q32 in the long arm of the ring, whereas in the less severely affected the loss of material during ring formation was restricted to the telomere. This provides further evidence for a clinical relevance of the detected mosaic configurations of the rings.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/11. The 9p- deletion syndrome. A patient with a 45, XX-9, -15, t(9/15) constitution due to maternal 3:1 meiotic disjunction.Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput hypertelorism and long upper lip were the main signs in the girl.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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