Partial trisomy 2q: report of a patient with dup (2)(q33.1q35).

The partial trisomy 2q phenotype has been well described in the literature, primarily through cases of unbalanced translocations. While these reports contributed to the initial delineation of the phenotype, reports of de novo duplications are valuable in that they exist in the absence of an accompanying monosomy. We describe a 16-month-old female with a de novo duplication of 2q from bands q33.1 to q35. The clinical findings of this patient include a congenital heart defect, dysmorphic facial features, hypotonia, feeding difficulties, and developmental delay. In contrast to most reported individuals with trisomy 2q, this patient demonstrates only mild developmental delays. We compare our findings with other case reports of partial trisomy 2q.

Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele.

PURPOSE: Neural tube defects (NTDs) are a group of widely varying congenital malformations resulting from incomplete or improper fusion of the neural tube during embryonic development. NTDs are traditionally classified by the presence or absence of a layer of skin covering the spinal defect. Although a genetic component has been well established in the etiology of open NTDs, studies examining the genetics of closed NTDs such as lipomyelomeningocele are rare. We and others have previously observed families in which multiple members were affected with a broad spectrum of NTDs, suggesting the possibility of a common genetic etiology. METHODS: We calculated the sibling recurrence risk in 52 pedigrees in which the proband was diagnosed with lipomyelomeningocele (LMM), defining recurrence broadly to include both closed and open neural tube defects. RESULTS: Although no recurrences of LMM were observed among younger siblings, one younger sibling had myelomeningocele, yielding an estimate of recurrence risk of 0.04 (95% CI 0.01-0.20). When all siblings of the proband were included, two additional affected siblings were identified, one with anencephaly and another with fatty filum, yielding an estimate of recurrence risk of 0.043 (95% CI 0.01-0.12). CONCLUSIONS: Although the sample size is small, these data are not inconsistent with recurrence risks for myelomeningocele, ranging from 2% to 5% in siblings. These data suggest the underlying genetic basis for closed defects may be the same or closely related to that for myelomeningocele in some families, although a larger sample will be necessary before these data are appropriate for use in a clinical setting. Further characterizations, including whether risk for recurrence of NTDs or LMM in families in which the proband is affected with LMM are altered by folate supplementation, may shed light on the underlying genetics.

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.

PURPOSE: To examine the relationship between adolescents' families' perception of the severity of neurofibromatosis (NF1) and the clinical severity of NF1, a genetic condition with variable manifestations. METHODS: The Perception of Severity of Chronic Illness (PSCI) questionnaire was administered to 56 parents of 47 adolescents with NF1. Each participant was asked one open-ended question regarding the challenges of living with NF1. Scores assessing the clinical severity of NF1 were assigned by health care providers in the NF Clinic. Correlation coefficients and paired t-test were used to evaluate the relationship between the clinical severity and the families' perceptions. Qualitative data were reviewed and grouped into themes. RESULTS: Parental perceptions were correlated with the degree of medical (r = 0.3116, p <.05), cognitive (r = 0.4911, p <.0001), and behavioral (r = 0.3341, p <.05) impairment of the adolescent. Adolescent perception was correlated with the degree of cognitive impairment (r = 0.5429, p <.0001). Parental and adolescent perceptions were correlated (r = 0.6724, p <.0001); however, adolescents viewed the condition's impact as being less than their parents (p <.001). The qualitative data provide additional insight into the concerns of these families. CONCLUSIONS: Families dealing with more medical, cognitive, and behavioral complications of NF1 perceive the impact of the condition on daily life as being greater than those families with fewer complications. The quantitative and qualitative results of this study have several implications for the clinical care of adolescents with NF1 and their families.