Interstitial deletion of the long arm of chromosome 4 [del(4)(q21.22q23)] and a liver tumor

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21. 22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, postaxial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum α-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed. Am. J. Med. Genet. 78:291–293, 1998. © 1998 Wiley-Liss, Inc.     

Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)]

A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery.     

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]

We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.     

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27→qter)]

We report on a terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27→qter)] in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compared to those of four previously reported cases with terminal del (3q). © 1996 Wiley-Liss, Inc.     

Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter

A patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3→qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Computed tomography (CT) and magnetic resonance imaging of this infant's brain demonstrated abnormality of the supratentorial white matter. This may represent either deficiency or delay in myelination or possibly a demyelination process. No abnormalities in white matter were described in seven of 33 previously reported patients whose brains were examined by ultrasound, CT, or autopsy.     

Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature

We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.     

Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)

Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation. © 1995 Wiley-Liss, Inc.     

Interstitial deletion of chromosome 7: A case report and review of the literature

A de novo deletion 7q11 leads to q21.2 was identified in a newborn with genital and other minor clinical abnormalities and some degree of psychomotor retardation. A review of the literature revealed a number of cases of deletion 7q, which can be categorized into three groups according to their breakpoints. Attempts to correlate phenotype with genotype in these cases have been only moderately successful, and as yet only deletion 7q32 leads to qter can be associated with a definite clinical syndrome, although a tentative syndrome may be postulated in association with deletion of region 7q22 leads to 7q31.     

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.     

Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura

Thrombocytopenia or pancytopenia is frequently reported in patients with partial 11q deletion but there are no reports on bone marrow morphology of these patients. We report on a patient with partial deletion of the long arm of chromosome 11 [del(11) (q24.2qter)] and its classical clinical manifestations including chronic thrombocytopenic purpura in whom micromegakaryocytes were found in the bone marrow aspirate. This is the first report of the presence of micromegakaryocytes in the bone marrow of a patient with 11q deletion. Accurate examination of the bone marrow of other patients with the 11q deletion may clarify whether the observation of micromegakaryocytes is common in these patients. Micromegakaryocytes may indicate a defect of development. Two genes for two DNA binding proteins that are likely to be involved in hematopoiesis map in the 11q region: Ets-1, that maps to 11q24, close to D11S912, and the nuclear-factor-related-kB gene that maps to 11q24-q25. It is possible that these genes, when present in only one copy, result in thrombocytopenia or pancytopenia as observed in this patient. © 1996 Wiley-Liss, Inc.     

Deletion of the long arm of chromosome 11 [46, XX, deI(11)(q24.1 → qter)]

A child who presented at three months of age with pyloric stenosis and pancytopenia was found to have a partial deletion of the long arm of chromosome 11, del(11)(q24.1----qter). Only two previous cases have been described with an apparently identical chromosomal deletion, and both exhibit similar phenotypic features. Other patients with larger deletions of the distal region of the long arm of chromosome 11 show many features in common with these three cases. It is suggested that the region of the long arm of chromosome 11 from band q24.1 to qter may contain the genetic material responsible for the expression of the 11q - phenotype.     

A de novo interstitial deletion of chromosome 6 (q22.2q23.1)

A unique interstitial deletion of the long arm of chromosome 6 involving bands q22.2 and q23.1 was observed in a patient referred for craniostenosis and developmental delay. The associated phenotypic anomalies are compared with other reported cases of deletion 6q involving adjacent regions.     

Interstitial deletion of the long arm of chromosome 1, del(1)(q21-q25) in a profoundly retarded 8-year-old girl with multiple anomalies

An 8-year-old girl revealed the karyotype 46, XX,del(l)(q21 → q25). Both parents had normal chromosomes. The patient showed the following findings: underweight at birth, severe growth deficiency (at 7 9/12 years, length, weight and head circumference were at the levels of 24, 18 and 6 months, respectively), delayed bone age; bilateral cleft lip and cleft palate; a pattern of facial dysmorphic stigmata including a short, bulbous nose, exotropia, anisocoria, absence of some teeth, poorly modeled auricles; very small hands and feet with short fingers and toes, and broad thumbs and big toes exhibiting dysplastic, hyperconvex nails; in radiographs multiple phalangeal cone-shaped epiphyses, bifid terminal phalanges of the thumbs and half-moon shaped terminal phalanges of the big toes and absence of the 12th ribs. The patient suffered from seizures and from recurrent otitis and pyuria. Motor and mental development were profoundly delayed: at 8 years she was unable to sit up, had no speech and barely responded to her environment. As the proband and her parents were Fy^a/Fy^b, location of the Duffy locus on segment 1q22 → 1q24 can be excluded.     

Interstitial deletion in the long arm of chromosome no. 5

A case of a male infant with several congenital anomalies combined with an interstitial deletion of the long arm of chromosome no. 5 is presented. The symptoms of the infant were compared to five previous reported cases with similar interstitial deletions in 5q.     

Interstitial deletion of the long arm of chromosome 11: Report of a case and review of the literature

Summary A 12-month-old female infant with developmental delay, growth retardation, and dysmorphic features including dolichocephaly, telecanthus, ptosis, flat nasal bridge, anteverted nares, high-arched palate, carp-shaped mouth, micro-retrognathia, and low-set and posteriorly rotated ears was found to have an interstitial deletion of chromosome 11 involving bands q14–q22. Immunoblot analysis of her fibroblasts revealed a normal amount of mitochondrial acetoacetyl-coenzyme A thiolase, of which gene locus has been assigned to chromosome 11q22.3–q23.1. This result suggested that the region around the boundary of 11q22.3–q23.1 was intact in this patient.     

Deletion of the long arm of chromosome 6: two new patients and literature review

Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46, XX, del(6)(q16.2q23.1)], and a boy with a terminal deletion [46, XY, del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.     

Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature

The clinical and cytogenetic data from a 26-year-old female with del(X)(q24 → ter) are reported. This breakpoint has not been described yet. Besides this report we give a comparative summary of 24 cases from the literature with different deletions of Xq.