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PubMed2002

Provisional new syndrome of MR/MCA with evolving phenotype.

We report on a 10-year-old patient with a provisionally new syndrome of MR/MCA with an evolving phenotype. Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; facial abnormalities with epicanthal folds, telecanthus, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with upturned nostrils, and low-set dysplastic ears; asymmetric deformed chest with prominent sternum and winged scapulae; wider thumbs and halluces; left cryptorchidism and unusual perianal creases. Chromosomal and metabolic studies were normal. With aging, the phenotype has changed significantly: cutis laxa disappeared, the perianal creases and hypotonia are much milder, the initial apparent macrocephaly turned out to be true microcephaly, broad thumbs are less evident, but skeletal anomalies are more striking. Unsuccessful extensive diagnostic searches since birth and presentation in meetings suggest the presence of a private syndrome.

Abnormalities, Multiple↗
PubMed2001

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.

Deletions within HSA band 4p16.3 cause Wolf-Hirschhorn syndrome (WHS), which comprises mental retardation and developmental defects. A WHS critical region (WHSCR) of approximately 165 kb has been defined on the basis of 2 atypical interstitial deletions; however, genotype-phenotype correlation remains controversial, due to the large size of deletion usually involving several megabases. We report on the first known patient with a small de novo interstitial deletion restricted to the WHSCR who presented with a partial WHS phenotype consisting only of low body weight for height, speech delay, and minor facial anomalies; shortness of stature, microcephaly, seizures and mental retardation were absent. The deletion was initially demonstrated by FISH analysis, and breakpoints were narrowed with a "mini-FISH" technique using 3-5 kb amplicons. A breakpoint-spanning PCR assay defined the distal breakpoint as disrupting the WHSC1 gene within intron 5, exactly after an AluJb repeat. The proximal breakpoint was not found to be associated with a repeated sequence or a known gene. The deletion encompasses 191.5 kb and includes WHSC2, but not LETM1. Thus, manifestations attributable to this deletion are reduced weight for height, minor facial anomalies, ADHD and some learning and fine motor deficiencies, while seizures may be associated with deletions of LETM1.

Abnormalities, Multiple↗
PubMed1977

The trisomy 4p syndrome: case report and review.

We report a further case of trisomy 4p: a 5-year-old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11 male, 16 female, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently "total" trisomy of the short term arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the "pure" trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.

Bone and Bones↗
PubMed1979

Cytogenetic findings in Roberts-SC phocomelia syndrome(s).

Roberts syndrome and SC phocomelia syndrome are an autosomal recessive condition of prenatal and postnatal growth retardation, symmetrical limb reduction, and craniofacial abnormalities. A distinction has been made between the two syndromes on the basis of relative severity of these manifestations. Where chromosome studies have been carried out, most have been reported as normal. However, there have been two reports of consistent centromere abnormalities; one in a patient with SC phocomelia (pseudothalidomide syndrome), the other in a patient with Roberts syndrome. Four patients with similar phenotypic manifestations have recently been shown in our laboratory to have the same centromere puffing and splitting. These four patients had other clinical manifestations in common, including bilateral corneal opacities, microcephaly, absence of radii, limited extension at knees and elbows, apparent enlargement of the phallus, and survival beyond the neonatal period.

Abnormalities, Multiple↗
PubMed1979

Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.

We report an uncle and niece with duplication and deletion, respectively, of segment 7p15 leads to 7p21 originating from a balanced, intrachromosomal insertion in their mothers. The proposita had prenatal and postnatal growth deficiency, retarded psychomotor development, microcephaly, wide cranial sutures, ocular hypertelorism, small palpebral fissures, apparently low-set and malformed ears, cleft palate, congenital heart defect, hypoplasia of the distal phalanx of first fingers, rocker-bottom feet, persistent cloaca, and imperforate anus. She died at three months. Her maternal uncle has duplication of this segment and is alive at 32 years. He has severe mental deficiency, but normal growth; communicating hydrocephalus was diagnosed at three months.

Abnormalities, Multiple↗
PubMed1979

Partial trisomy 20 confirmed by gene dosage studies.

We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial appearance, and minor skeletal anomalies, all very suggestive of the partial trisomy 20(p) syndrome. Although she was born to karyotypically normal parents, she had an extra small metacentric chromosome. Analysis of metaphase and prometaphase chromosomes by GTG banding and Giemsa 11 staining showed that the extra chromosome was a number 20 with a deletion of the distal end of the long arm. Gene dose studies of adenosine deaminase (ADA) and inosine triphosphatase (ITP) supported the cytogenetic interpretation.

Abnormalities, Multiple↗
PubMed1980

Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family.

A case of partial 3p trisomy is reported here. A review of published cases (8 males, 2 females, 7 families) shows a characteristic pattern of anomalies, constituting one more syndrome of multiple congenital anomaly and mental retardation (MCA/MR) characterized by microcephaly, brachycephaly, frontal bossing, temporal identation, square hypertelorism or telecanthus, epicanthus, short nose with a large tip, prominent cheeks, long and protruding philtrum, large and downturned mouth, protruding mid-upper lip, micro- or retrognathia, short neck, congenital heart defects, gastrointestinal malformation, penile hypoplasia, neuromotor or mental retardation, and predominance of whorls on digits. The proposita had a 46,XX,der(11),t(3;11)(p21;q25) karyotype. The mother was carrier of a de novo 3;11 balanced translocation. Chromosome mosaicism was detected in a female sibling of the proposita: 46% of her cells were 46,XX and 54% had 46,22,t(3;20(p21;13) karyotype - ie, a de novo 3;20 balanced translocation. We discuss the origin of this mosaicism and the possible meaning of the breaks involving the same region of chromosome 3 (region 3p 21) in the members of the proposita's family.

Abnormalities, Multiple↗
PubMed1980

Partial 3q trisomy due to an unbalanced 3/10 translocation.

A newborn with partial 3q trisomy is reported. This female, small for gestational age, had multiple dysmorphic features, including turricephaly, microcephaly, broad and flat nasal bridge, anteverted nares, small ears, short limbs, bilateral transverse palmar creases, and fifth finger clinodactyly. The patient expired at 20 hours of age. An autopsy demonstrated duplication of the vagina and cervix, a bicornuate uterus, and streak ovaries. Cytogenetic studies revealed the patient to be trisomic for the portion of 3q distal to band 21 [46, XX,-10,t(3;10)(q21;p15)]. The father was found to carry a balanced 3/10 translocation [46,XY,t(3;10)(q21;p15)].

Abnormalities, Multiple↗
PubMed1980

X-linked mental retardation: Renpenning revisited.

Nine men with X-linked mental retardation (MR) belonging to the family originally described by Renpenning and his colleagues have been reexamined and restudied. None of these men have the fragile X chromosome, and none have macro-orchidism; their testes range in size from small to average. All but one are severely retarded; one has an IQ of 70, the mean IQ of the remainder is 30 with a range of 18 to 45. They are short in stature, have small or normal-size ears and lower jaws, and a moderate degree of microcephaly, the mean skull circumference being just below two standard deviations from the normal.

Female↗
PubMed1981

Duplication 3p syndrome: report of a new case and review of the literature.

A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21 leads to pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include low birth weight, short stature, microcephaly, characteristic "square" face with temporal indentations, hypertelorism and/or telecanthus, epicanthus with a broad nasal bridge and large nasal tip, and down-turned corners of the mouth. Cleft lip/palate and eversion of the lips are common. The jaw is typically small and receding and the neck short. Congenital heart disease, gastrointestinal malformations, abnormalities on intravenous urography, and defective masculinization of the male infants are frequently observed. A predominance of whorls is present on the fingers. Nearly half of the cases died before 6 months. All affected children surviving beyond 1 year have been mentally retarded.

Abnormalities, Multiple↗
PubMed1982

Brief clinical report and review: the Marden-Walker syndrome.

We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum; camptodactylies and hip and finger joints subluxation. In addition, he had small, apparently low-set and slightly malformed auricles with a unilateral preauricular tag. However, he had no apparent renal or cardiovascular involvement. Results of CPK, EMG, and of histochemical, light microscopic, and ultrastructural studies of muscle biopsy do not suggest a primary myopathy but rather CNS related weakness/hypotonia with small muscle mass and hypoactive DTRs. This pathogenetic hypothesis is confirmed by the presence of severe mental retardation and minor brain changes suggesting cortical atrophy. In five previously reported cases there has been microcephaly. Phenotype analysis does not convince that the MWS is a true malformation syndrome, but rather hints at the possibility of a congenital metabolic dysplasia. Genetic analysis demonstrated autosomal-recessive inheritance in this and two other instances; primarily sporadic occurrence leaves open the possibility of genetic heterogeneity.

Abnormalities, Multiple↗
PubMed1982

Identical male twins and brother with Cockayne syndrome.

The clinical, radiological, and neuropathological findings in early onset Cockayne syndrome are illustrated in identical twins and their brother. Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the Seckel syndrome, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, and a severe degree of mental retardation. The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts. Their hands and feet were large in proportion to their small trunk. They had cutaneous sensitivity to any slight exposure to ultraviolet light and severe neurologic problems with incoordination and spasticity. Radiologic findings included microcephaly, a thick cranial vault, a small pelvis, coxa valga, and "ivory epiphyses" in terminal phalanges of hands and feet. Pathologic findings included atrophy of white matter with widespread patchy demyelination, and massive siderocalcific deposits in the brain, particularly in the basal ganglia and cerebellum. While autosomal recessive inheritance is most likely, formally X-linked inheritance cannot be excluded.

Brain↗
PubMed1983

Duplication 6q24 leads to 6qter in an infant from a balanced paternal translocation.

Duplication of 6q24 leads to 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 leads to q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation. Eleven previously published cases and our patient suggest that duplication of 6q (involving at least 6q25 leads to 6qter) produces a highly characteristic syndrome.

Abnormalities, Multiple↗
PubMed1983

Cranial defects in the Goldenhar syndrome.

Four patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts. Twelve cases from the literature add hydrocephalus, encephalocele, and arhinencephaly to a growing list of brain anomalies in GS. As a group, these patients emphasize the variability of GS and the increased risk for developmental retardation with multiple, severe, or unusual manifestations. The temporal relation of proposed teratogenic events in GS provides an opportunity to reconstruct biological relationships within the 3-5-week human embryo.

Brain↗
PubMed1983

Familial t(4;13) with abnormal offspring in three generations.

A newborn infant girl died at 1 day and was found to have severe intrauterine growth retardation, microcephaly, cleft lip and palate, single umbilical artery, absent thumbs, bicuspid pulmonic valve, pulmonary hypoplasia, malrotation of large and small bowel, and a 46,XX,13q+ chromosome constitution derived from a paternal t(4;13)(q25;q32) with resulting del(13q) and dup(4q). The paternal grandmother and great-grandmother also carried the balanced translocation. Each had had a child with multiple congenital anomalies including "duplex" thumbs. However, a chromosome analysis was not performed on these abnormal infants. Our patient's clinical and cytogenetic manifestations are discussed in relation to the Niebuhr map of chromosome 13.

Abnormalities, Multiple↗
PubMed1984

Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.

Sixteen cases of terminal deletions and 17 cases of interstitial deletions of the long arm of chromosome 7 have been reported to date. We present two new cases of the former and three of the latter. The somatic changes in these patients are tabulated and an update on the anomalies associated with the various cytogenetic entities is presented. Changes found in over one-third of patients with 7q terminal deletion syndrome include: developmental delay, pre- and postnatal growth retardation, generalized hypotonia, abnormal electroencephalograms with or without seizures, feeding problems in infancy, microcephaly, prominent forehead, ocular hypertelorism, eye defects, broad nasal bridge, bulbous nasal tip, auricular malformations, micrognathia, chest abnormalities, genital malformations in males, and abnormal palmar and plantar creases. Evidence for the localization of the Kidd blood group gene on chromosome 7 distal to band q32, as suggested by previous reports, is reviewed; we conclude that the evidence does not warrant placement of the gene in this region of the genome.

Abnormalities, Multiple↗
PubMed1984

Two chromosome aberrations in the child of a woman with systemic lupus erythematosus treated with azathioprine and prednisone.

A boy with microcephaly, unusual facial features, micropenis, and growth retardation was born to a 30-year-old woman who took azathioprine and prednisone before and during pregnancy for systemic lupus erythematosus. The child has two apparently de novo chromosomal abnormalities: an apparently balanced translocation between chromosomes 6 and 14 and an interstitial deletion of chromosome 7. The karyotype is 46,XY,del(7)(q21);t(6;14)(q21;q12). Use of azathioprine and prednisone in pregnancy has been associated with intrauterine growth retardation, congenital malformations, and transient chromosome breaks in the blood of newborns. To our knowledge, this is the first report of de novo constitutional chromosome abnormalities in such an infant. We suggest that the assessment of infants born to parents treated with azathioprine should include a chromosome study, even if the infants seem to be normal.

Abnormalities, Drug-Induced↗
PubMed1984

Brief clinical report: duplication of distal 17q: report of an observation.

We describe a boy with the syndrome due to dup(17q) resulting from a paternal balanced t(12;17) (q24;q23). The comparison of the clinical findings in our patient with those previously reported shows that the dup(17q23----qter) is associated with a clinically recognizable syndrome. Anomalies present in greater than or equal to 75% of the patients were severe psychomotor retardation; short stature; microcephaly; frontal bossing and temporal retraction; widow's peak; narrow palpebral fissures; flat nasal bridge; thin upper lip overlapping thin lower lip; downturned corners of the mouth; apparently low-set, posteriorly angulated and malformed ears; low posterior hairline; widely spaced nipples; cryptorchidism; proximal limb shortness; and hyperlaxity of limb joints. The translocation carrier father of our patient had a Poland anomaly.

Abnormalities, Multiple↗