We present a newborn with multiple congenital abnormalities in whom array comparative genomic hybridization (aCGH) along with fluorescence in situ hybridization (FISH) revealed two distinct microdeletions on chromosomes 13q and 2q. Parental aCGH studies demonstrated that both deletions were inherited from the father who had, in addition, a third deletion on chromosome 6q. The proposita's paternal half-sister was also tested and found to have not only the 2q and 6q deletions, but also a duplication 17p that was subsequently discovered in the proposita's mother as well. aCGH studies in this family, notable for four discrete copy number variations (CNVs), underscore both the new complexities being revealed at a rapid pace as well as the increasing need for greater communication between clinicians and genetic laboratory professionals regarding genotype-phenotypic associations.The proposita was referred for genetic consultation at birth due to a high-pitched cry, an unusual appearance, and small size. Physical examination at 36 weeks gestational birth age revealed a female infant with a weight of 1,810 g (<3rd centile), a length of 45 cm (10th-25th centile), a head circumference of 32 cm (25th-50th centile), communicating anterior and posterior fontanelles, minor blepharophimosis, microretrognathism, small ear lobules, an anteriorly displaced anus, one vertical crease on each sole, brachydactyly of the fifth fingers and toes, adducted thumbs, a shortened fifth metatarsal on the left, and minor syndactyly between the second and third toes ( Fig. 1A-C). In the hands, there was disruption of the right transverse distal palmar flexion crease, effaced distal finger flexion creases on the third and fourth fingers, extra finger flexion creases in the mid-phalanx of the index finger, and increased number of large whorls with vertical extension in the fourth finger. 7-Dehydrocholesterol serum concentration was within normal limits. Central nervous system and cardiac imaging were requested and revealed the Dandy-Walker complex, as well as atrial and ventricular septal defects with a patent ductus arteriosus. Genetics follow-up occurred at 3 months of age at which the time growth and development were significantly delayed. Weight was 3.6 kg, length 54 cm, and head circumference 35.7 cm (all 3rd centile). Due to a weak oromotor-sucking reflex, feeding was via a percutaneous gastrostomy tube. At 6 months, with continued feeding issues, weight was 4.7 kg, length 60.2 cm, and head circumference 38.5 cm (all 3rd centile). She was reevaluated by cardiology and felt to be hemodynamically stable. Plans were to postpone cardiac surgery until there was a notable improvement in her nutritional status. At the age of 7 months, she died unexpectedly at home. No autopsy was conducted.The family history at birth demonstrated that the proposita resulted from the only pregnancy between 24-year-old nonconsanguineous parents. From a previous union, the mother had a 6-year-old son with a history of asthma and transient, self-limited, pulmonic stenos...