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.     

An interstitial deletion of the long arm of chromosome 13

A case of an interstitial deletion of chromosome 13, identified as 46,XY,del(13)(q22q31), is reported in a child with psychomotor retardation, prominent low-set ears, epicanthus, hypertelorism, broad nasal bridge, hypoplastic fifth fingers and abnormal dermatoglyphics. This patient is compared to others in the literature with a similar deletion.     

Deletion of the distal long arm of chromosome 1: A definable syndrome

Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of 1q. Characteristic manifestations include round face with prominent “cupid's bow” and downturned corners of the mouth, thin vermilion borders of lips, long upper lip with smooth philtrum, short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac, genital, and other anomalies, moderate to severe mental retardation, and growth retardation. The deletion includes 1q42 or 1q43→qter and was a de novo defect in nine of 15 cases.     

Interstitial deletion 4q32‐34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome

We report on an infant with Robin sequence; mild developmental delay; a left ulnar ray defect with absent ulna and associated metacarpals, carpals and phalanges; and a right ulnar nerve hypoplasia. He had a de novo interstitial deletion of 4q32→q34. The critical region involved in the 4q terminal deletion syndrome may be 4q33. This conclusion was suggested by showing that del(4)(q31qter), del(4)(q32qter), and del(4)(q33qter) result in a similarly severe phenotype. In addition, we propose that genes for distal arm development, in particular for development of the left ulnar ray, central nervous system development, and cleft lip and palate, may be located at 4q33. © 2001 Wiley‐Liss, Inc.     

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.     

Deletion of a portion of the long arm of chromosome 6

We describe a 3-year-old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low-set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep apnea.     

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

Interstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14–16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf-Hirschhorn syndrome. © 1995 Wiley-Liss, Inc.     

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.     

A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21–23→1q25

We present two unrelated children with the de novo interstitial deletion of the proximal segment of the long arm of chromosome 1 (1q21–23→1q25). Comparison of the phenotypic characteristics of these two patients with those of two previously described patients with similar deletion confirms the existence of the proximal 1q deletion syndrome. The characteristics of this newly recognized deletion syndrome include pre- and postnatal growth retardation; severe psychomotor retardation; microbrachycephaly; sparse, fine scalp hair and eyebrows; cleft lip and palate; hernias; genitalia defects; small hands and feet; and clinodactyly of the fifth fingers.     

De novo 10q22 interstitial deletion

We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.


Keywords: chromosome 10; interstitial deletion; deletion 10q; multiple congenital anomaly (MCA) syndrome     

A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype

We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter → p21.2::p12 → qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplasia, and ear anomalies. Family history was unremarkable and parental chromosomes were normal. The clinical manifestations of the patient are compared with those of 10 patients previously described with a proximal 3p deletion. The additional CHARGE-like phenotype is discussed. Am. J. Med. Genet. 69:413–417, 1997. © 1997 Wiley-Liss, Inc.     

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.     

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

Two unrelated children, one with a proximal interstitial deletion 1 (1(pter----q21: :q25----qter] and the other one with a distal interstitial deletion 1 (1(pter----q41: :q43----qter] are presented. The clinical features of the patient with a proximal deletion (q21-q25) correspond with those of eight earlier reported cases with a deletion 1q21/22/23----q25. The second patient with the distal interstitial deletion (q41-q43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion 1q with at least one common band missing (1q42).     

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.     

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient

We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cytogenetic studies after G-banding revealed the karyotype 46,XY,del(4)(q34). The 4-year-old male showed mild facial dysmorphism, moderate mental retardation with speech retardation, and marked deficits in gross motor skills. Our patient is the second with this deletion described in the literature. In both patients the phenotype was characterized by mild to moderate mental retardation, abnormalities of the pinnae, and nonspecific facial dysmorphism. The mild phenotype might explain why only two patients with this deletion have been described so far.     

Boy with a chromosome del (3)(q12q23) and Blepharophimosis syndrome

We report on a 6-year-old boy with de novo 46, XY, del(3)(q12q23) and bilateral blepharo-phimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further “contiguous gene syndrome”.     

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases. Am. J. Med. Genet. 71:189–193, 1997. © 1997 Wiley-Liss, Inc.